Gene: Nfic MGI:109591

Registered for phenotyping at IMPC

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

Gene Summary

Name:

nuclear factor I/C

Synonyms:

NF1-C, nuclear factor 1-C2, 1500041O16Rik, 1110019L22Rik

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 Nfic 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 Nfic (0 diseases)
Human diseases predicted to be associated with Nfic (609 diseases)

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

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

Disease	Matching phenotypes	Source
Dentin Dysplasia, Type I	Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration...	OMIM:125400
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar	OMIM:114700
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi...	OMIM:617297
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Tooth Agenesis, Selective, 9	Taurodontia, Selective tooth agenesis, Microdontia	OMIM:617275
Amelogenesis Imperfecta, Type Ia	Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:104530
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Anonychia-Microcephaly Syndrome	Abnormality of the dentition, Carious teeth	ORPHA:1094
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ...	OMIM:166750
Trichodentoosseous Syndrome	Taurodontia, Microdontia, Widely spaced teeth	OMIM:190320
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Taurodontism	Taurodontia	OMIM:272700
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Amelogenesis Imperfecta, Type Iv	Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia	OMIM:104510
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Ora...	ORPHA:199306
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth	ORPHA:2027
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth	ORPHA:71267
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic...	ORPHA:3352
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro...	ORPHA:2972
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2222
Otodental Syndrome	Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo...	ORPHA:2791
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia	OMIM:614832
Trichodental Dysplasia	Hypodontia, Conical tooth, Odontodysplasia	OMIM:601453
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion...	ORPHA:83451
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno...	ORPHA:477781
Fused Mandibular Incisors	Abnormality of the dentition, Advanced eruption of teeth	ORPHA:2287
Amelogenesis Imperfecta, Type Ik	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:620104
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Late-Onset Junctional Epidermolysis Bullosa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79406
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization	OMIM:613211
Dental Ankylosis	Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis	ORPHA:1077
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Amelogenesis Imperfecta, Type Iiib	Amelogenesis imperfecta, Enamel hypomineralization	OMIM:617607
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo...	OMIM:616221
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Natal tooth, Abnormal mandible morphology	OMIM:217150
Epidermolysis Bullosa, Junctional 1A, Intermediate	Hypodontia, Carious teeth, Enamel hypoplasia, Oral mucosal blisters	OMIM:226650
Splenogonadal Fusion With Limb Defects And Micrognathia	Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors	OMIM:183300
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2026
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b...	ORPHA:2025
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Junctional Epidermolysis Bullosa Inversa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79405
Gigantiform Cementoma, Familial	Tooth malposition, Cementoma, Multiple impacted teeth	OMIM:137575
Cleft Palate, Isolated	Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate	OMIM:119540
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia	ORPHA:3196
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:616270
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee...	ORPHA:2228
Atkin-Flaitz Syndrome	Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,...	ORPHA:1193
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth	ORPHA:3145
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Dentin Dysplasia	Abnormal dental enamel morphology, Abnormal dental morphology	ORPHA:1653
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Pyle Disease	Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,...	OMIM:265900
Odontochondrodysplasia	Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia	ORPHA:166272
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Epidermolysis Bullosa, Junctional 4, Intermediate	Dental enamel pits, Carious teeth	OMIM:619787
Immunodeficiency 33	Hypodontia, Conical tooth, Delayed eruption of teeth	OMIM:300636
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth	OMIM:615887
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hypodontia, Delayed eruption of teeth	ORPHA:63442
Intellectual Disability, Birk-Barel Type	High, narrow palate, Micrognathia, Open mouth, Tented upper lip vermilion, Broad philtrum, Hypera...	ORPHA:166108
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta	OMIM:610967
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, High palate	OMIM:613849
Rubinstein-Taybi Syndrome 2	Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Micrognathia, Increased overbite...	OMIM:613684
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man...	ORPHA:2325
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Atten...	OMIM:618761
Tooth Agenesis, Selective, 3	Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia	OMIM:604625
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta	OMIM:301014
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	High palate, Enamel hypoplasia, Retrognathia	OMIM:617915
Cranioectodermal Dysplasia	Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia, Taurodontia, Hypodo...	ORPHA:1515
Filippi Syndrome	Serrated incisors, Abnormal dental morphology, Microdontia, Hypodontia, Thin vermilion border, Sh...	OMIM:272440
Hemifacial Atrophy, Progressive	Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami	OMIM:141300
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv...	OMIM:618729
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Supernumerary tooth, Oligodontia	ORPHA:1264
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
Teeth Present At Birth	Natal tooth	OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta	OMIM:619795
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Enamel hypoplasia, Malar flattening, Thin vermilion border	ORPHA:139474
Intellectual Developmental Disorder, X-Linked 58	Short philtrum, Dental malocclusion	OMIM:300210
Nance-Horan Syndrome	Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar	OMIM:302350
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Dental malocclusion, Widely-spaced maxillary central incisors, Incisor ...	OMIM:619719
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent...	ORPHA:1028
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Maxi...	OMIM:300602
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Enamel hypoplasia	OMIM:226700
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Intellectual Developmental Disorder, Autosomal Dominant 21	Long philtrum, Narrow mouth, Thin vermilion border, Incisor macrodontia, Cleft palate	OMIM:615502
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Carious teeth, Generalized hypoplasia of dental enamel	OMIM:203550
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Odontomicronychial Dysplasia	Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los...	ORPHA:1811
Intermediate Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79402
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Carious teeth, Enamel hypoplasia	OMIM:614564
Kohlschutter-Tonz Syndrome	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:226750
48,Xxyy Syndrome	Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm...	ORPHA:10
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Dental crowding, Delayed eruption of teeth, Long philtrum, Obsessive-compulsive trait, Motor ster...	OMIM:618825
Ectodermal Dysplasia/Short Stature Syndrome	Dysphagia, Hypodontia, Enamel hypoplasia, Delayed eruption of teeth	OMIM:616029
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, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth...	OMIM:612529
48,Xyyy Syndrome	Long philtrum, Thick lower lip vermilion, Aggressive behavior, Enamel hypoplasia, Irregularly spa...	ORPHA:99329
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Ectopic tooth eruption	OMIM:606893
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Micrognathia, Microdontia	OMIM:610706
Snijders Blok-Campeau Syndrome	Widely spaced teeth, Taurodontia, Attention deficit hyperactivity disorder, Enamel hypoplasia, Hi...	OMIM:618205
Heimler Syndrome 1	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:234580
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Stimmler Syndrome	Abnormal dental enamel morphology, Microdontia	ORPHA:3199
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypodontia, Delayed eruption of teeth	ORPHA:1816
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Orofacial Cleft 15	Bilateral cleft lip, Palate fistula, Agenesis of lateral incisor, Bilateral cleft palate	OMIM:616788
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Retrognathia, Thick lower lip vermilion, Bruxism, Persistence of primary teeth, ...	OMIM:618342
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
X-Linked Hypohidrotic Ectodermal Dysplasia	Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia	ORPHA:181
Ramon Syndrome	Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth	ORPHA:3019
Osteogenesis Imperfecta, Type Vi	Dentinogenesis imperfecta	OMIM:613982
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Micrognathia, Microdontia	OMIM:112240
Hall-Riggs Syndrome	Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Microdontia of pri...	OMIM:234250
Brittle Cornea Syndrome 1	Dentinogenesis imperfecta	OMIM:229200
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum	ORPHA:3214
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo...	OMIM:157980
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth	OMIM:615905
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Attention deficit hyperactivity...	OMIM:619736
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Oral mucosal blisters	ORPHA:79411
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Microdontia, Deep philtrum, Talon cusp, Cleft palate	OMIM:605282
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Solitary median maxillary central incisor, Hypodonti...	ORPHA:952
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Enamel hypoplasia	OMIM:226670
Eem Syndrome	Carious teeth, Selective tooth agenesis, Widely spaced teeth, Abnormal dental morphology, Microdo...	ORPHA:1897
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Microretrognathia, Tooth agenesis, Micrognathia, Amelogenesis imperfecta, Enamel h...	OMIM:618363
Nance-Horan Syndrome	Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia	ORPHA:627
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border	OMIM:618506
Odontochondrodysplasia 1	Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum	OMIM:184260
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Delayed eruption of teeth	OMIM:612463
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te...	OMIM:618067
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth	ORPHA:248
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Downturned corners of mouth	ORPHA:2643
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Tooth agenesis, Micrognathia, Abnormality of the philtrum, High palate...	ORPHA:2863
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormality of the dentition, Carious teeth, Abnormal palate morphology	ORPHA:3270
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Micrognathia	OMIM:259420
Odontotrichoungual-Digital-Palmar Syndrome	Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border	OMIM:601957
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth	ORPHA:2501
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Intellectual Developmental Disorder, Autosomal Recessive 39	Motor stereotypy, Aggressive behavior, Dental malocclusion, Hyperactivity	OMIM:615541
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Cranioectodermal Dysplasia 4	Taurodontia, Smooth philtrum, Thin vermilion border	OMIM:614378
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Head-banging, Micrognathia, Open mouth, Narrow mouth, Microdontia, Delayed eruption of permanent ...	OMIM:619356
Cole-Carpenter Syndrome 2	Dentinogenesis imperfecta, High palate, Microretrognathia	OMIM:616294
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia	ORPHA:251393
Arthrogryposis, Distal, Type 12	High palate, Dental crowding, Agenesis of maxillary incisor	OMIM:620545
Hypothyroidism, Congenital, Nongoitrous, 6	Macroglossia, Delayed eruption of teeth	OMIM:614450
W Syndrome	Agenesis of maxillary central incisor, Upper lip pit, Broad uvula, Submucous cleft hard palate	ORPHA:2804
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta	OMIM:610968
Orofaciodigital Syndrome Ii	Hypoplasia of the maxilla, Lobulated tongue, Micrognathia, Malar flattening, Agenesis of central ...	OMIM:252100
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Jalili Syndrome	Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta	ORPHA:1873
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Abnormality of canine, Hypoplasia of the maxilla, Abnormality of the dentition...	ORPHA:363417
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2238
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Dentinogenesis imperfecta, Periodontitis, Retrognathia, Delayed eruption of permanent teeth, Prem...	OMIM:619269
Smith-Magenis Syndrome	Self-injurious behavior, Cleft upper lip, Micrognathia, Open mouth, Tented upper lip vermilion, D...	ORPHA:819
Orofaciodigital Syndrome Iii	Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules	OMIM:258850
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Microglossia, Cleft mandible, Tented upper lip vermilion, Agenesis of cent...	ORPHA:364577
Heimler Syndrome 2	Amelogenesis imperfecta, Dental crowding	OMIM:616617
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta	OMIM:166220
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m...	ORPHA:364028
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Cerebellofaciodental Syndrome	Taurodontia, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Aggressive ...	OMIM:616202
Rapp-Hodgkin Syndrome	Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc...	OMIM:129400
48,Xxxy Syndrome	Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont...	ORPHA:96263
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular...	OMIM:614669
49,Xxxxy Syndrome	Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Overfrien...	ORPHA:96264
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Taurodontia, Pulp calcification, Enamel hypoplasia	OMIM:211900
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Taurodontia, Abnormality of the dentition, Abnormal dental enamel morphology	ORPHA:3220
Amelocerebrohypohidrotic Syndrome	Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b...	ORPHA:1946
Seckel Syndrome 5	Retrognathia, Selective tooth agenesis, Micrognathia, Oligodontia, Hypodontia, Enamel hypoplasia,...	OMIM:613823
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion	OMIM:619692
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	High palate, Mandibular prognathia, Dental malocclusion	OMIM:618292
Hypophosphatasia, Childhood	Carious teeth, Premature loss of primary teeth	OMIM:241510
4H Leukodystrophy	Dysphagia, Hypodontia, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:289494
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Laron Syndrome	Tooth agenesis, Micrognathia, Delayed eruption of teeth, Microdontia	ORPHA:633
Ectodermal Dysplasia-Syndactyly Syndrome 1	Conical tooth, Enamel hypoplasia, Widely spaced teeth	OMIM:613573
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ...	ORPHA:2919
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Widely spaced teeth, Stereotypical body rocking, Open mouth, Advance...	OMIM:617865
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Supernumerary tooth, Agenesis of molar, Diastema, Microdontia	OMIM:619718
Osteogenesis Imperfecta, Type Xiii	Thin vermilion border, Dentinogenesis imperfecta, Long philtrum	OMIM:614856
Brachycephaly, Trichomegaly, And Developmental Delay	Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard palate, Thin vermilion b...	OMIM:617412
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to...	ORPHA:2751
Oculodentodigital Dysplasia, Autosomal Recessive	Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio...	OMIM:257850
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Agitation	OMIM:272300
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Enamel hypoplasia	OMIM:612843
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Abnormality of the dentition, Mandibular prognathia, Dental malocclusion	ORPHA:1858
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Unilateral cleft lip, Micrognathia, Malar flattening, Oligodontia, Supernume...	ORPHA:1787
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Dental malocclusion, Malar flattening, Widely spaced teeth	OMIM:616108
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Widely spaced teeth, Delayed eruption of teeth, Thick lower lip vermilion	OMIM:619797
Tetrasomy 12P	Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,...	ORPHA:884
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Absent frontal sinuses, Hypodontia, Enamel hy...	OMIM:253250
Cenani-Lenz Syndactyly Syndrome	Micrognathia, Malar flattening, Hypodontia, Enamel hypoplasia, Premature loss of permanent teeth	OMIM:212780
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Thick vermilion border, Sh...	ORPHA:137834
Dermatitis Herpetiformis	Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth	ORPHA:1656
Sjogren-Larsson Syndrome	Enamel hypoplasia	OMIM:270200
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Abnormal de...	ORPHA:69087
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta	OMIM:166200
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Craniosynostosis 3	Dental malocclusion	OMIM:615314
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Malan Syndrome	Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption...	OMIM:614753
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Hypodontia, Natal tooth, Oligodontia	OMIM:601345
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, High palate, ...	ORPHA:438216
Pycnodysostosis	Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs...	OMIM:265800
Anti-Glomerular Basement Membrane Disease	Persistence of primary teeth	ORPHA:375
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth, Advanced eruption of ...	ORPHA:1133
Acrootoocular Syndrome	High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Grayish enamel...	ORPHA:2980
Dental Anomalies And Short Stature	Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta...	OMIM:601216
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Neuromuscular dysphagia, Retrognathia	ORPHA:466722
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever...	OMIM:616367
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Facial hyperos...	OMIM:218400
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Carious teeth, Bilateral cleft palate	ORPHA:1997
Chand Syndrome	Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenesis of maxilla...	ORPHA:1401
Branchioskeletogenital Syndrome	Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Abnormality of the dentition, Downturned c...	ORPHA:1299
Lowry-Maclean Syndrome	High, narrow palate, Hypoplasia of the maxilla, Downturned corners of mouth, Retrognathia, Microg...	ORPHA:2409
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick vermilion border, Hype...	OMIM:614607
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Isolated Cleft Lip	Velopharyngeal insufficiency, Supernumerary maxillary incisor, Macrodontia, Hypodontia, Bilateral...	ORPHA:199302
Trichorhinophalangeal Syndrome, Type Iii	Dental crowding, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Supernumerary tooth	OMIM:190351
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta	OMIM:616507
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	High palate, Supernumerary tooth, Persistence of primary teeth	OMIM:619752
Trichorhinophalangeal Syndrome Type 2	Abnormality of the dentition, Long philtrum, Abnormal palate morphology, Thin upper lip vermilion...	ORPHA:502
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma...	OMIM:204690
Flynn-Aird Syndrome	Carious teeth	OMIM:136300
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Enamel hypoplasia, Widely spaced teeth	OMIM:620193
Zimmermann-Laband Syndrome	Bifid uvula, Micrognathia, Wide mouth, Supernumerary tooth, Hypodontia, Macroglossia, High palate...	ORPHA:3473
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ...	OMIM:618727
Elsahy-Waters Syndrome	Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long phil...	OMIM:211380
Osteoglosphonic Dysplasia	Multiple unerupted teeth, Micrognathia, Tooth agenesis	ORPHA:2645
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Malar flattening, Abnormal palate morphology, Retrognathia	ORPHA:1390
Camptodactyly Syndrome, Guadalajara Type 1	Dental malocclusion, Downturned corners of mouth, Open bite, Narrow mouth, Abnormality of dental ...	ORPHA:1327
Bent Bone Dysplasia Syndrome 1	Micrognathia, Natal tooth, Malar flattening, Gingival overgrowth	OMIM:614592
Oslam Syndrome	Carious teeth	ORPHA:2760
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Hall-Riggs Syndrome	Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morphology, Thick ...	ORPHA:2107
Spinocerebellar Ataxia, Autosomal Recessive 20	Dental crowding, Delayed eruption of teeth, Long philtrum, Broad philtrum, Thick vermilion border...	OMIM:616354
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Tooth agenesis, Micrognathia, Abnormal palate morphology, Multiple unerupted teeth, Crowded maxil...	ORPHA:2063
Craniosynostosis 2	Cleft soft palate, Supernumerary tooth	OMIM:604757
Craniometadiaphyseal Dysplasia	Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Malar flattening, Microdon...	OMIM:269300
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Advanced eruption of teeth, High palate, Mandibular prognathia	OMIM:262190
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:245660
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man...	OMIM:602483
Trichorhinophalangeal Syndrome Type 1	Abnormality of the dentition, Long philtrum, Micrognathia, Long upper lip, High palate, Supernume...	ORPHA:77258
Hypophosphatasia, Adult	Carious teeth, Premature loss of primary teeth, Premature loss of permanent teeth	OMIM:146300
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Narrow palate, Carious teeth, Narrow mouth, Thick lower lip vermilion	ORPHA:457365
Char Syndrome	Agenesis of permanent teeth, Persistence of primary teeth, Malar flattening, Triangular mouth, Ev...	ORPHA:46627
Trichodermodysplasia-Dental Alterations Syndrome	Abnormal dental morphology, Supernumerary tooth, Delayed eruption of teeth, Tooth agenesis	ORPHA:3353
Oculoskeletodental Syndrome	Abnormality of the dentition, Retrognathia, Microdontia, Oligodontia, Enamel hypoplasia	ORPHA:557003
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Natal tooth, Delayed eruption of teeth, Oligodontia, Hypodontia, Dysphagia	OMIM:614381
Cherubism	Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin...	OMIM:118400
Aarskog-Scott Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum...	ORPHA:915
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality of primary teeth,...	OMIM:150400
Dysosteosclerosis	Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth	ORPHA:1782
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Long philtrum, Gingival overgrowth, Open ...	ORPHA:420561
Braddock-Carey Syndrome 1	Enamel hypoplasia, Everted lower lip vermilion, Thick vermilion border, U-Shaped upper lip vermil...	OMIM:619980
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth	OMIM:617105
Coffin-Siris Syndrome 3	Long philtrum, Delayed eruption of permanent teeth, Thick vermilion border, Macroglossia, High pa...	OMIM:614608
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, M...	ORPHA:50814
X-Linked Hypophosphatemia	Odontodysplasia, Tooth abscess, Abnormal dentin morphology	ORPHA:89936
Tremor-Ataxia-Central Hypomyelination Syndrome	Hypodontia, Dysphagia, Delayed eruption of teeth, Oligodontia	ORPHA:447896
Osteogenesis Imperfecta, Type X	Dentinogenesis imperfecta, Micrognathia, Malar flattening	OMIM:613848
Cerebellar-Facial-Dental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Long philtrum, Micrognat...	ORPHA:444072
Oculodentodigital Dysplasia	Carious teeth, Selective tooth agenesis, Cleft upper lip, Microdontia, Taurodontia, Enamel hypopl...	OMIM:164200
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Motor stereotypy, Micrognathia, Natal tooth, Dysphagia	OMIM:617802
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Short philtrum, Natal tooth, Cleft palate	OMIM:617337
Cockayne Syndrome Type 2	Widely spaced primary teeth, Hypoplasia of the primary teeth, Delayed eruption of primary teeth, ...	ORPHA:90322
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormal temper tantrums, Dental malocclusion, Long philtrum, Micrognathia, Aggressive behavior, ...	ORPHA:73223
Pachyonychia Congenita 2	Angular cheilitis, Natal tooth, Oral leukoplakia	OMIM:167210
Schimke Immuno-Osseous Dysplasia	Abnormal primary molar morphology, Hypodontia, Microdontia	ORPHA:1830
Blepharophimosis-Impaired Intellectual Development Syndrome	Dental malocclusion, Widely spaced teeth, Exaggerated cupid's bow, Microdontia, Thin upper lip ve...	OMIM:619293
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Malar flattening, Protruding tongue, Motor stereotypy,...	OMIM:610253
Acrofacial Dysostosis, Catania Type	Micrognathia, Carious teeth, Malar flattening, Cleft palate	OMIM:101805
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Hypodontia, High palate	OMIM:612350
Congenital Syphilis	Hyperplasia of the maxilla, Mulberry molar, Notched primary central incisor, High palate, Semilun...	ORPHA:499009
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Hypodontia, Carious teeth	OMIM:612079
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Oral-pharyngeal dysphagia, Misalignment of incisors, Oligodontia, Hypodontia, En...	OMIM:619184
Cleidocranial Dysplasia	High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo...	ORPHA:1452
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypoplasia of teeth, Carious teeth	OMIM:613312
Endosteal Hyperostosis, Autosomal Dominant	Torus palatinus, Dental malocclusion	OMIM:144750
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	OMIM:226730
Osteopetrosis, Autosomal Recessive 2	Persistence of primary teeth, Carious teeth, Mandibular prognathia, Mandibular osteomyelitis	OMIM:259710
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Hypodontia, Supernumerary tooth	ORPHA:90024
Pachyonychia Congenita	Angular cheilitis, Natal tooth, Oral leukoplakia, Advanced eruption of teeth	ORPHA:2309
Three M Syndrome 2	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Malar flattening, Thick vermilion ...	OMIM:612921
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilion, Bilateral clef...	OMIM:618874
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Enamel hypoplasia, Narrow mouth, Dysphagia, Oral mucosal blisters	OMIM:226600
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Micrognathia, Natal tooth	OMIM:616901
Oculofaciocardiodental Syndrome	Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Submuc...	ORPHA:2712
Brachydactyly, Type B1	Delayed eruption of permanent teeth	OMIM:113000
Codas Syndrome	Abnormal dental enamel morphology, Abnormal dental morphology, Delayed eruption of teeth	ORPHA:1458
Trisomy 9P	Impacted tooth, Dental crowding, Non-midline cleft of the upper lip, Downturned corners of mouth	ORPHA:236
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Attention deficit hyperactivity disorder, Micrognathia, Delayed eruption of teeth, Hyperactivity	ORPHA:73272
Marshall Syndrome	Bifid uvula, Macrodontia of permanent maxillary central incisor, Long philtrum, Thick lower lip v...	OMIM:154780
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Osteogenesis Imperfecta, Type Viii	Dentinogenesis imperfecta	OMIM:610915
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth	OMIM:609638
Cole-Carpenter Syndrome	Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth	ORPHA:2050
Enamel-Renal Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho...	ORPHA:1031
Qazi-Markouizos Syndrome	High, narrow palate, Hypoplasia of teeth, Open mouth, Broad philtrum	ORPHA:3010
Odontoonychodermal Dysplasia	Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t...	OMIM:257980
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Delayed eruption of teeth	OMIM:612462
Cerebrooculofacioskeletal Syndrome 1	Carious teeth, Delayed eruption of teeth, Long philtrum, Micrognathia, Thin vermilion border	OMIM:214150
Usher Syndrome Type 2	Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia	ORPHA:231178
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Retrognathia, Gingival overgrowth, Narrow mouth, Malar flattening, Oli...	OMIM:235510
Marbach-Rustad Progeroid Syndrome	Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Hypodontia, Smoo...	OMIM:619322
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Thin vermilion border, Supernumerary tooth, Malar flattening, Thick vermilion border	ORPHA:86818
Oculodentodigital Dysplasia	Broad alveolar ridges, Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, Microgna...	ORPHA:2710
Lacrimoauriculodentodigital Syndrome 2	Hypodontia, Conical tooth, Carious teeth, Microdontia	OMIM:620192
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of primary teeth, Dental crowding	OMIM:619769
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Long philtrum	ORPHA:263463
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Conical tooth, Everted upper lip verm...	OMIM:305100
Eiken Syndrome	Eruption failure, Thick lower lip vermilion, Persistence of primary teeth, Multiple impacted teet...	OMIM:600002
Seckel Syndrome 1	Dental malocclusion, Dental crowding, Selective tooth agenesis, Micrognathia, Enamel hypoplasia, ...	OMIM:210600
Pseudohypoparathyroidism, Type Ia	Enamel hypoplasia, Delayed eruption of teeth	OMIM:103580
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Notched primary central incisor, Cleft lip	OMIM:620519
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Micrognathia, Sel...	ORPHA:476126
Duplication Of The Pituitary Gland	Retrognathia, Self-mutilation, Supernumerary tooth, Wide mouth, Cleft palate	ORPHA:314621
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Abnormal dental enamel morphology, Hypodontia, Oligodontia	ORPHA:59303
Andersen Cardiodysrhythmic Periodic Paralysis	Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla...	OMIM:170390
Pycnodysostosis	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Pers...	ORPHA:763
Holoprosencephaly 9	Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Downturned corners ...	OMIM:610829
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth	ORPHA:1883
Robin Sequence With Cleft Mandible And Limb Anomalies	Bifid uvula, Microretrognathia, Agenesis of mandibular central incisor, Cleft mandible, Micrognat...	OMIM:268305
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth	OMIM:126550
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bifid uvula, Abnormality of the dentition, Inappropriate laughter, Motor stereotypy, Enamel hypop...	OMIM:615802
Beaulieu-Boycott-Innes Syndrome	Micrognathia, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency	OMIM:613680
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Oral leukoplakia, Premature loss of teeth	OMIM:616353
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dentinogenesis imperfecta, Carious teeth, Long philtrum, Micrognathia, Microdontia, High palate	ORPHA:536467
Pseudohypoparathyroidism Type 1B	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:94089
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Abnormality of the dentition, Delayed eruption of teeth, Microdo...	ORPHA:289
Lelis Syndrome	Hypodontia, Carious teeth, Mandibular prognathia, Furrowed tongue	ORPHA:140936
Den Hoed-De Boer-Voisin Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ...	OMIM:619229
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Carious teeth	OMIM:612714
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Retrognathia, Long philtrum, Micrognathia, Abnormality of dental eruption, A...	ORPHA:96092
Trichothiodystrophy 3, Photosensitive	Eclabion, Carious teeth, Natal tooth	OMIM:616395
Immunodeficiency 49	Short philtrum, Micrognathia, Natal tooth	OMIM:617237
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw	ORPHA:199276
Vitamin D-Dependent Rickets, Type 2A	Carious teeth, Enamel hypoplasia, Delayed eruption of teeth	OMIM:277440
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Carious teeth, Oral mucosal blisters	ORPHA:79410
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Bifid uvula, Delayed eruption of teeth, Retrognathia, Facial hyperostosis, M...	ORPHA:2780
Ohdo Syndrome	Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Smooth philtrum, Thin vermilion b...	OMIM:249620
Teebi Hypertelorism Syndrome 1	Dental crowding, Natal tooth, Long philtrum, Micrognathia, Thin upper lip vermilion	OMIM:145420
Eec Syndrome	Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, Microdontia, Taurodontia, Orofa...	ORPHA:1896
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Oral leuko...	ORPHA:1775
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bone, Narrow mouth, Mandi...	ORPHA:1110
Bloom Syndrome	Agenesis of maxillary lateral incisor, Malar flattening	OMIM:210900
Scarf Syndrome	Enamel hypoplasia, Long philtrum, Hypocalcification of dental enamel	ORPHA:3134
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Micrognathia, Micro...	OMIM:190350
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Thick vermilion border, Open mouth, Everted lower lip vermilion, High ...	OMIM:615866
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Oral mucosal blisters	ORPHA:79409
Melnick-Needles Syndrome	Tooth malposition, Craniofacial hyperostosis, Micrognathia, Delayed eruption of teeth	ORPHA:2484
Coffin-Lowry Syndrome	Self-injurious behavior, Craniofacial hyperostosis, Hypoplasia of the maxilla, Narrow palate, Del...	ORPHA:192
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,...	ORPHA:1071
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Everted lower lip vermilion, M...	ORPHA:534
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Micrognathia, Carious teeth, Glossoptosis	ORPHA:93346
Kleefstra Syndrome Due To A Point Mutation	Self-injurious behavior, Abnormality of the dentition, Natal tooth, Thick lower lip vermilion	ORPHA:261652
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Malar flattening	OMIM:608257
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Cleft lip, Long philtrum, Hair-pulling, Compu...	OMIM:620568
Ellis-Van Creveld Syndrome	Natal tooth, Delayed eruption of teeth, Cleft upper lip, Hypodontia, Abnormal alveolar ridge morp...	OMIM:225500
Familial Adenomatous Polyposis 1	Carious teeth, Odontoma, Eruption failure, Supernumerary tooth	OMIM:175100
Chromosome 13Q33-Q34 Deletion Syndrome	Cleft lip, Delayed eruption of teeth, Micrognathia, Open mouth, Irregular dentition, Gingival ove...	OMIM:619148
Craniolenticulosutural Dysplasia	Bifid uvula, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, Malar flattenin...	OMIM:607812
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Gingivitis, Abnormality of the dentition, Delayed eruption of teeth, Cleft palate	ORPHA:2314
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hypodontia, Enamel hypoplasia, Oligodontia	OMIM:607626
Microphthalmia, Lenz Type	Self-injurious behavior, Abnormality of the dentition, Delayed eruption of teeth, Abnormal dental...	ORPHA:568
Johanson-Blizzard Syndrome	Abnormality of the dentition, Microdontia, Delayed eruption of teeth, Oligodontia	ORPHA:2315
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enamel hypoplasia, Delayed eruption of teeth	OMIM:264700
Kleefstra Syndrome	Self-injurious behavior, Delayed eruption of teeth, Downturned corners of mouth, Tented upper lip...	ORPHA:261494
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Hypodontia, Abnorma...	ORPHA:659
Orofaciodigital Syndrome Xix	Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Retrognathia, Cleft ...	OMIM:620107
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Natal tooth, Dental malocclusion, Selective tooth agenesis, M...	OMIM:234100
Recon Progeroid Syndrome	Dental crowding, Prominence of the premaxilla, Smooth philtrum, Thin vermilion border, Delayed er...	OMIM:620370
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Long philtrum	OMIM:610682
Familial Partial Lipodystrophy, Dunnigan Type	Advanced eruption of teeth	ORPHA:2348
Chilton-Okur-Chung Neurodevelopmental Syndrome	Self-injurious behavior, Mandibular prognathia, Widely spaced teeth, Ankyloglossia, Micrognathia,...	OMIM:619841
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Delayed eruption of teeth, Micrognathia, Oligodontia, Abse...	OMIM:224300
Cleidocranial Dysplasia 1	High, narrow palate, Narrow palate, Absent paranasal sinuses, Micrognathia, Hypoplastic frontal s...	OMIM:119600
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Short philtrum, Micrognathia, Cleft palate	ORPHA:949
Congenital Disorder Of Glycosylation, Type Iil	Enamel hypoplasia, Retrognathia	OMIM:614576
Emanuel Syndrome	Broad jaw, Tooth malposition, Bifid uvula, Submucous cleft lip, Dental crowding, Delayed eruption...	ORPHA:96170
Andersen-Tawil Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Persistence of primary ...	ORPHA:37553
3M Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip vermilion, Long p...	ORPHA:2616
Barber-Say Syndrome	Wide mouth, Delayed eruption of teeth	ORPHA:1231
Raine Syndrome	Mandibular prognathia, Natal tooth, Micrognathia, Narrow mouth, Protruding tongue, Malar flatteni...	OMIM:259775
Familial Osteodysplasia, Anderson Type	Tooth malposition, Carious teeth, Failure of eruption of permanent teeth, Malar flattening, Abnor...	ORPHA:2769
Hamamy Syndrome	Dental malocclusion, Long philtrum, Micrognathia, Thin upper lip vermilion, Hypodontia, Smooth ph...	OMIM:611174
Orofaciodigital Syndrome I	Carious teeth, Microretrognathia, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis o...	OMIM:311200
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Delayed eruption of teeth, Thick lower lip vermilion, Abnormal dental morpho...	ORPHA:369950
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Carious teeth, Natal tooth, Dental crowding, Dental malocclusion, Abnorm...	ORPHA:353281
Lethal Acantholytic Erosive Disorder	Natal tooth, Cleft palate	ORPHA:158687
Cockayne Syndrome Type 1	Abnormality of the dentition, Widely spaced primary teeth, Hypoplasia of the primary teeth, Delay...	ORPHA:90321
Short Syndrome	Dental malocclusion, Delayed eruption of teeth, Downturned corners of mouth, Micrognathia, Hypodo...	OMIM:269880
Rothmund-Thomson Syndrome	Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Selective tooth agenesis,...	ORPHA:2909
Bone Marrow Failure Syndrome 3	Downturned corners of mouth, Micrognathia, Oral ulcer, Microdontia, Hypodontia, Amelogenesis impe...	OMIM:617052
Acrodysostosis	Hypoplasia of the maxilla, Delayed eruption of teeth, Open bite, Open mouth, Mandibular prognathia	ORPHA:950
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Abnormal mandible morphology, Long philtrum, Narrow mouth, Exaggerat...	ORPHA:2215
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Agenesis of permanent teeth, Micrognathia, Micr...	OMIM:268400
Sotos Syndrome	High, narrow palate, Narrow jaw, Advanced eruption of teeth, Attention deficit hyperactivity diso...	OMIM:117550
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Long philtrum, Thick lower lip vermilion, Narrow mouth, Aggressive behavior, Mesiodens	ORPHA:314647
Osteogenesis Imperfecta	Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela...	ORPHA:666
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Natal tooth, Micrognathia, Narrow mouth, Malar...	ORPHA:2108
Fgfr2-Related Bent Bone Dysplasia	Micrognathia, Natal tooth, Gingival overgrowth	ORPHA:313855
Gapo Syndrome	Delayed eruption of teeth, Long philtrum, Micrognathia, Abnormal palate morphology, Everted lower...	ORPHA:2067
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion	OMIM:615560
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Tented upper lip vermilion, Short philtrum, Mandibular prognathia, Delayed eruption of permanent ...	ORPHA:521445
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Hypoplasia of teeth, Widely spaced teeth, Cleft palate, Microdontia	ORPHA:2728
Knobloch Syndrome 2	Micrognathia, Enamel hypoplasia	OMIM:618458
Kilquist Syndrome	Hypoplasia of teeth, Mandibular prognathia, Wide mouth	OMIM:619080
Frontometaphyseal Dysplasia 1	Dental malocclusion, Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary ...	OMIM:305620
Hennekam Syndrome	Abnormal oral mucosa morphology, Delayed eruption of teeth, Retrognathia, Tooth agenesis, Abnorma...	ORPHA:2136
Kabuki Syndrome 2	Natal tooth, Dental malocclusion, Micrognathia, Lower lip pit, Hypodontia, High palate, Cleft palate	OMIM:300867
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Pulp calcification, Microdontia	OMIM:606895
Genitopatellar Syndrome	Micrognathia, Delayed eruption of teeth, Long philtrum	ORPHA:85201
Mucopolysaccharidosis, Type Ii	Macroglossia, Widely spaced teeth, Delayed eruption of teeth, Thick lower lip vermilion	OMIM:309900
Gardner Syndrome	Abnormality of the dentition, Multiple unerupted teeth, Supernumerary tooth, Odontoma	ORPHA:79665
Xfe Progeroid Syndrome	Enamel hypoplasia, Premature loss of teeth	OMIM:610965
Barber-Say Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien...	OMIM:209885
Emanuel Syndrome	Broad jaw, Dental crowding, Long philtrum, Micrognathia, Recurrent sinusitis, Delayed eruption of...	OMIM:609029
Chime Syndrome	Abnormality of the dentition, Abnormal dental morphology, Microdontia, Hypodontia, Thick vermilio...	ORPHA:3474
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Ramon Syndrome	Narrow palate, Gingival fibromatosis, Delayed eruption of teeth	OMIM:266270
Developmental And Epileptic Encephalopathy 100	Micrognathia, Gingival overgrowth, Protruding tongue, Tented upper lip vermilion, Microdontia, En...	OMIM:619777
Corneodermatoosseous Syndrome	Abnormal dental enamel morphology, Carious teeth, Gingivitis	ORPHA:3194
Scarf Syndrome	Enamel hypoplasia, Long philtrum	OMIM:312830
Lead Poisoning	Attention deficit hyperactivity disorder, Delayed eruption of teeth, Anorexia	ORPHA:330015
Acrocallosal Syndrome	Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl...	OMIM:200990
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala...	ORPHA:2250
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Delayed eruption of teeth, Narrow palate, Mandibular prog...	ORPHA:87
Otopalatodigital Syndrome, Type I	Selective tooth agenesis, Narrow mouth, Malar flattening, Multiple impacted teeth, Absent frontal...	OMIM:311300
Apc-Related Attenuated Familial Adenomatous Polyposis	Supernumerary tooth, Odontoma	ORPHA:247806
Monosomy 9Q22.3	Delayed eruption of teeth, Long philtrum, Narrow mouth, Orofacial cleft, Hyperactivity, Odontogen...	ORPHA:77301
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Enamel hypoplasia	OMIM:243150
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Dental crowding, Polydipsia, Furrowed tongue, Gingival overgrowth, ...	ORPHA:769
Acrodysostosis 1 With Or Without Hormone Resistance	Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Hypodontia, Mandibular...	OMIM:101800
Hypocalcemic Vitamin D-Dependent Rickets	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:289157
Autosomal Recessive Robinow Syndrome	Abnormality of the dentition, Downturned corners of mouth, Long philtrum, Open bite, Ankyloglossi...	ORPHA:1507
Celiac Disease, Susceptibility To, 1	Recurrent aphthous stomatitis, Stomatitis, Enamel hypoplasia	OMIM:212750
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth	OMIM:300952
Ctcf-Related Neurodevelopmental Disorder	Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Abnormal temper...	ORPHA:363611
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Enamel hypoplasia, Retrognathia, Microdontia	OMIM:210720
Carpenter Syndrome 1	Hypoplasia of the maxilla, Agenesis of permanent teeth, Persistence of primary teeth, Micrognathi...	OMIM:201000
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thick upper lip vermilion, Micrognathia, Thin upper lip vermilion, Cle...	OMIM:247200
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Calvarial osteosclerosis	ORPHA:93325
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Dental crowding, Delayed eruption of teeth, Micrognathia, Narrow mouth, Submucous cl...	OMIM:300990
Dubowitz Syndrome	Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, Agenesis of permanent tee...	OMIM:223370
Autosomal Dominant Robinow Syndrome	High, narrow palate, Downturned corners of mouth, Long philtrum, Retrognathia, Open bite, Microgn...	ORPHA:3107
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hypoplastic facial bones, Cleft lip, Natal tooth, Microretrognathia, Hamartoma of tongue, Incompl...	OMIM:616300
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Narrow palate, Natal tooth, Gingival overgrowth, Narrow mouth, Malar flattening, Hig...	OMIM:123790
Distal Deletion 12Q	High, narrow palate, Microglossia, Long philtrum, Micrognathia, Obsessive-compulsive trait, Self-...	ORPHA:96149
Congenital Disorder Of Glycosylation, Type Iim	Thick vermilion border, Open mouth, Exaggerated cupid's bow, Fused teeth, Enamel hypoplasia, High...	OMIM:300896
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Retrognathia, Open mouth, Deep philtrum, High palate	ORPHA:1675
Premature Aging Syndrome, Penttinen Type	Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Micrognathia, Narrow philtrum...	OMIM:601812
Adnp Syndrome	Abnormal temper tantrums, Oral-pharyngeal dysphagia, Thick lower lip vermilion, Thin upper lip ve...	ORPHA:404448
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2036
Craniosynostosis And Dental Anomalies	Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Dental crowding, High ...	OMIM:614188
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental maloc...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental maloc...	ORPHA:353277
Spondyloenchondrodysplasia	Dental malocclusion, Delayed eruption of teeth	ORPHA:1855
Pseudohypoparathyroidism Type 1C	Polyphagia, Enamel hypoplasia, Delayed eruption of teeth	ORPHA:79444
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Gin...	OMIM:135500
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Gingival overgrowth, Delayed eruption of teeth	ORPHA:508542
Rubinstein-Taybi Syndrome 1	High, narrow palate, Narrow palate, Hypoplasia of the maxilla, Dental crowding, Retrognathia, Den...	OMIM:180849
Codas Syndrome	Enamel hypoplasia, Delayed eruption of teeth	OMIM:600373
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Widely spaced teeth, Gingival overgrowth, Alveolar ridge overgrowth, M...	OMIM:301072
Pitt-Hopkins Syndrome	Self-injurious behavior, Tooth malposition, Failure of eruption of permanent teeth, Abnormal pala...	ORPHA:2896
Blomstrand Lethal Chondrodysplasia	Natal tooth, Long philtrum, Micrognathia, Protruding tongue, Malar flattening	ORPHA:50945
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hypoplasia of the maxilla, Micrognathia, Delayed eruption of teeth, Gingival overgrowth	OMIM:259600
Helsmoortel-Van Der Aa Syndrome	Carious teeth, Ankyloglossia, Polyphagia, Everted lower lip vermilion, Motor stereotypy, Dysphagi...	OMIM:615873
Rothmund-Thomson Syndrome Type 1	Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal ...	ORPHA:221008
Coffin-Siris Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Oral aversion, Thin upper lip vermilion, Ag...	ORPHA:1465
1P21.3 Microdeletion Syndrome	Self-injurious behavior, Abnormal eating behavior, Micrognathia, Self-mutilation, Aggressive beha...	ORPHA:293948
Gapo Syndrome	High, narrow palate, Eruption failure, Long philtrum, Thick lower lip vermilion, Micrognathia	OMIM:230740
Familial Adenomatous Polyposis	Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Odontoma, Supernume...	ORPHA:733
Peters-Plus Syndrome	Hypoplasia of the maxilla, Cleft upper lip, Widely spaced teeth, Long philtrum, Micrognathia, Sho...	OMIM:261540

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us