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Gene: Nfic MGI:109591

Not currently registered for phenotyping at IMPC

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

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 (604 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	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
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	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition	ORPHA:1094
Trichodentoosseous Syndrome	Microdontia, Taurodontia, 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
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Taurodontism	Taurodontia	OMIM:272700
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	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, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Enamel hypoplasia, Hypodontia, Oral mucosal blisters	OMIM:226650
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Atkin-Flaitz Syndrome	Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor...	ORPHA:1193
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:3145
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene...	OMIM:613849
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Intellectual Disability, Birk-Barel Type	Hyperactivity, Tented upper lip vermilion, Micrognathia, High, narrow palate, Incisor macrodontia...	ORPHA:166108
Odontochondrodysplasia	Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Dental enamel pits	OMIM:619787
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Rubinstein-Taybi Syndrome 2	Hyperactivity, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High ...	OMIM:613684
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Attention ...	OMIM:618761
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta	OMIM:610967
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta	OMIM:301014
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v...	ORPHA:1515
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Supernumerary tooth, Abnormality of the dentition	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
Filippi Syndrome	Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors	OMIM:272440
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor	OMIM:302350
17Q11.2 Microduplication Syndrome	Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Intellectual Disability And Myopathy Syndrome	Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ...	OMIM:619719
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide...	OMIM:300602
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Enamel hypoplasia	OMIM:226700
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Carious teeth, Generalized hypoplasia of dental enamel	OMIM:203550
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia	OMIM:615502
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
Intermediate Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79402
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip	OMIM:616788
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth...	ORPHA:10
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Aggressive behavior, Wide mouth, High palate, Attenti...	OMIM:618825
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
48,Xyyy Syndrome	Impulsivity, Aggressive behavior, Thick lower lip vermilion, Irregularly spaced teeth, High palat...	ORPHA:99329
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia, Dysphagia	OMIM:616029
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypodontia	ORPHA:1816
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Snijders Blok-Campeau Syndrome	Taurodontia, High palate, Widely spaced teeth, Attention deficit hyperactivity disorder, Enamel h...	OMIM:618205
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Dental crowding, Persistence of primary teeth, Micrognathia, Aggressive behavior, ...	OMIM:618342
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion	ORPHA:181
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate	ORPHA:3019
Hall-Riggs Syndrome	Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape...	OMIM:234250
Junctional Epidermolysis Bullosa Inversa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79405
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Brittle Cornea Syndrome 1	Dentinogenesis imperfecta	OMIM:229200
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	OMIM:157980
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia	OMIM:605282
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H...	OMIM:619736
Cole-Carpenter Syndrome 1	Microdontia, Dentinogenesis imperfecta, Micrognathia	OMIM:112240
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Pulp calcification, Taurodontia, Enamel hypoplasia	OMIM:211900
Eem Syndrome	Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo...	ORPHA:1897
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Micrognathia, Carious teeth, Pierre-Robin sequence, Cle...	OMIM:618363
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow	OMIM:618506
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Enamel hypoplasia	OMIM:226670
Nance-Horan Syndrome	Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Odontochondrodysplasia 1	Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum	OMIM:184260
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W...	OMIM:618067
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Enamel hypoplasia	ORPHA:2643
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth	ORPHA:248
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612463
Late-Onset Junctional Epidermolysis Bullosa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79406
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Abnormal palate morphology, Abnormality of the dentition	ORPHA:3270
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Tooth agenesis, High palate...	ORPHA:2863
Intellectual Developmental Disorder, Autosomal Recessive 39	Abnormal repetitive mannerisms, Hyperactivity, Dental malocclusion, Aggressive behavior	OMIM:615541
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Micrognathia	OMIM:259420
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Metaphyseal Chondrodysplasia, Spahr Type	Carious teeth, Abnormality of the dentition	ORPHA:2501
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia	ORPHA:251393
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Head-banging, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open ...	OMIM:619356
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79411
Cole-Carpenter Syndrome 2	Microretrognathia, High palate, Dentinogenesis imperfecta	OMIM:616294
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta	OMIM:610968
W Syndrome	Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit	ORPHA:2804
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia	OMIM:614450
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,...	OMIM:252100
Cranioectodermal Dysplasia 4	Thin vermilion border, Smooth philtrum, Taurodontia	OMIM:614378
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ...	ORPHA:363417
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper...	ORPHA:819
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin...	OMIM:619269
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Aggressive behavior, Narrow palate, Short upper lip, Thick vermilion borde...	ORPHA:364028
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion, Aggressive ...	OMIM:616202
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta	OMIM:166220
Rapp-Hodgkin Syndrome	Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c...	OMIM:129400
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96263
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	ORPHA:2563
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96264
Acrofacial Dysostosis, Catania Type	Carious teeth	OMIM:101805
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Taurodontia, Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:3220
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Seckel Syndrome 5	Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename...	OMIM:613823
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion	OMIM:619692
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, High palate, Dental malocclusion	OMIM:618292
Laron Syndrome	Microdontia, Tooth agenesis, Delayed eruption of teeth, Micrognathia	ORPHA:633
Hypophosphatasia, Childhood	Carious teeth, Premature loss of primary teeth	OMIM:241510
Ectodermal Dysplasia-Syndactyly Syndrome 1	Enamel hypoplasia, Widely spaced teeth, Conical tooth	OMIM:613573
Osteogenesis Imperfecta, Type Xiii	Thin vermilion border, Dentinogenesis imperfecta, Long philtrum	OMIM:614856
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Dysphagia, Abnormality of the dentition	ORPHA:289494
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Microdontia, Agenesis of molar, Supernumerary tooth, Diastema	OMIM:619718
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Tongue thrusting, Pica, Downturned corners of mouth, Stereotypical body rocking, E...	OMIM:617865
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Trichorhinophalangeal Syndrome, Type Iii	Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Smooth philtrum	OMIM:190351
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Agitation	OMIM:272300
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Sjogren-Larsson Syndrome	Enamel hypoplasia	OMIM:270200
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth	OMIM:619797
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Enamel hypoplasia	OMIM:612843
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Dental malocclusion, Abnormality of the dentition	ORPHA:1858
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Dental malocclusion, Widely spaced teeth	OMIM:616108
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo...	OMIM:253250
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r...	OMIM:218400
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia	OMIM:212780
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Wide mouth, Short philtrum...	ORPHA:137834
Acrofacial Dysostosis, Palagonia Type	Micrognathia, High, narrow palate, Supernumerary tooth, Oligodontia, Unilateral cleft lip, Malar ...	ORPHA:1787
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel...	ORPHA:69087
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta	OMIM:166200
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna...	OMIM:265800
Craniosynostosis 3	Dental malocclusion	OMIM:615314
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Hypodontia	OMIM:601345
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ...	ORPHA:438216
Acrootoocular Syndrome	Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth...	ORPHA:2980
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth...	ORPHA:1133
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia, Neuromuscular dysphagia	ORPHA:466722
Branchioskeletogenital Syndrome	Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m...	ORPHA:1299
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Anti-Glomerular Basement Membrane Disease	Persistence of primary teeth	ORPHA:375
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ...	ORPHA:2409
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm...	OMIM:216550
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Blepharo-Cheilo-Odontic Syndrome	Carious teeth, Bilateral cleft lip and palate, Conical tooth	ORPHA:1997
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Hyperactivity, Thick lower lip vermilion, Cleft palate, Wide mouth, Ma...	OMIM:614607
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta	OMIM:616507
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Trichorhinophalangeal Syndrome Type 2	Thin upper lip vermilion, Abnormality of the dentition, Supernumerary tooth, Deep philtrum, Aplas...	ORPHA:502
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	High palate, Persistence of primary teeth	OMIM:147060
Flynn-Aird Syndrome	Carious teeth	OMIM:136300
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, High palate, Persistence of primary teeth	OMIM:619752
Zimmermann-Laband Syndrome	Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocc...	ORPHA:3473
Osteoglosphonic Dysplasia	Tooth agenesis, Multiple unerupted teeth, Micrognathia	ORPHA:2645
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar...	OMIM:618727
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Macroglossia, High palate, Thick vermilion border, Lo...	OMIM:616354
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Oslam Syndrome	Carious teeth	ORPHA:2760
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Enamel hypoplasia, Widely spaced teeth	OMIM:620193
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Malar flattening, Retrognathia, Abnormal palate morphology	ORPHA:1390
Char Syndrome	Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v...	ORPHA:46627
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De...	OMIM:610829
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis, Multiple unerupted teeth...	ORPHA:2063
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned...	ORPHA:1327
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig...	OMIM:269300
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Advanced eruption of teeth, High palate	OMIM:262190
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth	ORPHA:457365
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology	ORPHA:3353
Hypophosphatasia, Adult	Carious teeth, Premature loss of permanent teeth, Premature loss of primary teeth	OMIM:146300
Trichorhinophalangeal Syndrome Type 1	Abnormality of the dentition, Micrognathia, Supernumerary tooth, High palate, Long philtrum, Long...	ORPHA:77258
Aarskog-Scott Syndrome	Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of the dentiti...	ORPHA:915
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia, Dysphagia	OMIM:614381
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Bent Bone Dysplasia Syndrome 1	Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia	OMIM:614592
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
Oculoskeletodental Syndrome	Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia	ORPHA:557003
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology	ORPHA:1782
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79409
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over...	ORPHA:420561
Braddock-Carey Syndrome 1	Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, U-Shape...	OMIM:619980
X-Linked Hypophosphatemia	Odontodysplasia, Tooth abscess, Abnormal dentin morphology	ORPHA:89936
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth	OMIM:617105
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Coffin-Siris Syndrome 3	Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick vermilion bord...	OMIM:614608
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia, Dysphagia	ORPHA:447896
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Abnormal repetitive mannerisms, Dysphagia, Micrognathia	OMIM:617802
Osteogenesis Imperfecta, Type X	Malar flattening, Dentinogenesis imperfecta, Micrognathia	OMIM:613848
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Short philtrum, Cleft palate	OMIM:617337
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Impulsivity, Micrognathia, Aggressive behavior, Dental malocclusion, Localized hypoplasia of dent...	ORPHA:73223
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,...	OMIM:164200
Cerebellar-Facial-Dental Syndrome	Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Long philtrum, Macrodo...	ORPHA:444072
Cockayne Syndrome Type 2	Mandibular prognathia, Delayed eruption of primary teeth, Widely spaced primary teeth, Hypoplasia...	ORPHA:90322
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Aggressive b...	OMIM:610253
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Dental malocclusion, Wide mouth, Short philtru...	OMIM:619293
Schimke Immuno-Osseous Dysplasia	Microdontia, Abnormal primary molar morphology, Hypodontia	ORPHA:1830
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Bifid uvula	OMIM:612350
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Angular cheilitis	OMIM:167210
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79410
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Carious teeth, Hypodontia	OMIM:612079
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypoplasia of teeth	OMIM:613312
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Oral-pharyngeal dysphagia, Pierre-Robin sequence, Cleft palate, Oligodontia, Thi...	OMIM:619184
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M...	ORPHA:1452
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth	OMIM:259710
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia	ORPHA:90024
Pachyonychia Congenita	Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia	ORPHA:2309
Three M Syndrome 2	Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru...	OMIM:612921
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Micrognathia	OMIM:616901
Brachydactyly, Type B1	Delayed eruption of permanent teeth	OMIM:113000
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat...	ORPHA:2712
Osteogenesis Imperfecta, Type Viii	Dentinogenesis imperfecta	OMIM:610915
Codas Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1458
Trisomy 9P	Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth	ORPHA:236
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Hyperactivity, Attention deficit hyperactivity disorder, Micrognathia	ORPHA:73272
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Marshall Syndrome	Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s...	OMIM:154780
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Narrow mouth, Enamel hypoplasia, Dysphagia, Oral mucosal blisters	OMIM:226600
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
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
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth	OMIM:609638
Qazi-Markouizos Syndrome	High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth	ORPHA:3010
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612462
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Malar flattening, Supernumerary tooth, Thin vermilion border, Thick vermilion border	ORPHA:86818
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Micrognathia, Carious teeth, Thin vermilion border, Long philtrum	OMIM:214150
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	OMIM:226730
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Hyperactivity, Gingival overgrowth, Narrow palate, Conical incisor, Ol...	OMIM:235510
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma...	OMIM:305100
Oculodentodigital Dysplasia	Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri...	ORPHA:2710
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth	OMIM:619769
Duplication Of The Pituitary Gland	Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Retrognathia, Self-muti...	ORPHA:314621
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Long philtrum	ORPHA:263463
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
Seckel Syndrome 1	Hyperactivity, Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Clef...	OMIM:210600
Usher Syndrome Type 2	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:231178
Lacrimoauriculodentodigital Syndrome 2	Carious teeth, Microdontia, Hypodontia, Conical tooth	OMIM:620192
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Abnormality of the dentition, Micrognathia, Aggressive behavior, Eruption failur...	ORPHA:476126
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Enamel hypoplasia	OMIM:103580
Marbach-Rustad Progeroid Syndrome	Delayed eruption of primary teeth, Micrognathia, Eruption failure, Hypodontia, Narrow mouth, Smoo...	OMIM:619322
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the...	OMIM:170390
Eiken Syndrome	Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee...	OMIM:600002
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hypodontia, Oligodontia, Abnormal dental enamel morphology	ORPHA:59303
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ...	OMIM:190350
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth	OMIM:126550
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth	ORPHA:1883
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl...	ORPHA:763
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C...	OMIM:268305
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormality of the dentition, Wide mouth, Inappropriate laughter, Enamel hypoplasia, Abnormal rep...	OMIM:615802
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Micrognathia	OMIM:613680
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Premature loss of teeth, Oral leukoplakia	OMIM:616353
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical...	ORPHA:289
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Micrognathia, Carious teeth, High palate, Long philtrum, Microdontia, Dentinogenesis imperfecta	ORPHA:536467
8P Inverted Duplication/Deletion Syndrome	Impulsivity, Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Evert...	ORPHA:96092
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Eclabion	OMIM:616395
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ...	ORPHA:2780
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth	ORPHA:950
Immunodeficiency 49	Natal tooth, Short philtrum, Micrognathia	OMIM:617237
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw	ORPHA:199276
Eec Syndrome	Abnormal dental enamel morphology, Carious teeth, Cleft palate, Orofacial cleft, Tooth agenesis, ...	ORPHA:1896
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Enamel hypoplasia, Carious teeth	OMIM:277440
Ohdo Syndrome	Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narrow mouth, Smoo...	OMIM:249620
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Carious teeth	OMIM:612714
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Long philtrum	OMIM:145420
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Carious teeth, Stereotypical hand wringing, Dysphagia, Widely spaced t...	OMIM:619229
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo...	ORPHA:1110
Scarf Syndrome	Enamel hypoplasia, Hypocalcification of dental enamel, Long philtrum	ORPHA:3134
Bloom Syndrome	Malar flattening, Agenesis of maxillary lateral incisor	OMIM:210900
Lelis Syndrome	Mandibular prognathia, Carious teeth, Hypodontia, Furrowed tongue	ORPHA:140936
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Periodontiti...	ORPHA:1775
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormality of the ...	ORPHA:659
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Tooth malposition, Micrognathia	ORPHA:2484
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, C...	ORPHA:534
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t...	ORPHA:192
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Malar flattening, Dental malocclusion, Micrognathia	OMIM:608257
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor...	OMIM:615866
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi...	ORPHA:1071
Familial Adenomatous Polyposis 1	Eruption failure, Supernumerary tooth, Carious teeth, Odontoma	OMIM:175100
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Hyperactivity, Tented upper lip vermilion, Microg...	OMIM:619148
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo...	OMIM:225500
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Oligodontia, Hypodontia, Enamel hypoplasia	OMIM:607626
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t...	OMIM:607812
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Self-injurious behavior, Thick lower lip vermilion, Abnormality of the dentition	ORPHA:261652
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Orofacial cl...	ORPHA:568
Johanson-Blizzard Syndrome	Microdontia, Oligodontia, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2315
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enamel hypoplasia	OMIM:264700
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Cleft palate, Gingivitis, Abnormality of the dentition	ORPHA:2314
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Long philtrum	OMIM:610682
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent...	OMIM:224300
Recon Progeroid Syndrome	Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth, Thin vermilio...	OMIM:620370
Familial Partial Lipodystrophy, Dunnigan Type	Advanced eruption of teeth	ORPHA:2348
Hallermann-Streiff Syndrome	Natal tooth, Hyperactivity, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernum...	OMIM:234100
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Aggressive behavior, Agenesis of i...	OMIM:619841
Congenital Disorder Of Glycosylation, Type Iil	Enamel hypoplasia, Retrognathia	OMIM:614576
Cleidocranial Dysplasia 1	Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup...	OMIM:119600
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Short philtrum, Cleft palate, Micrognathia	ORPHA:949
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth	ORPHA:1231
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ...	ORPHA:2769
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali...	ORPHA:2909
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Dental crowding, Micrognathia, Submucous cleft lip, Cleft p...	ORPHA:96170
Short Syndrome	Delayed eruption of teeth, Micrognathia, Dental malocclusion, Downturned corners of mouth, Hypodo...	OMIM:269880
Hamamy Syndrome	Thin upper lip vermilion, Micrognathia, Dental malocclusion, Wide mouth, High palate, Everted low...	OMIM:611174
Orofaciodigital Syndrome Xix	Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Tongue nodules, Downtur...	OMIM:620107
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
3M Syndrome	Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p...	ORPHA:2616
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Hyperactivity, Dental crowding, Impulsivity, Aggressive behavior, Carious teeth, Abn...	ORPHA:353281
Raine Syndrome	Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p...	OMIM:259775
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, Aggressive behavior, High, n...	ORPHA:369950
Lethal Acantholytic Erosive Disorder	Natal tooth, Cleft palate	ORPHA:158687
Orofaciodigital Syndrome I	Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu...	OMIM:311200
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Microg...	ORPHA:666
Bone Marrow Failure Syndrome 3	Hyperactivity, Micrognathia, Oral ulcer, Downturned corners of mouth, Hypodontia, Microdontia, En...	OMIM:617052
Cockayne Syndrome Type 1	Mandibular prognathia, Delayed eruption of primary teeth, Abnormality of the dentition, Widely sp...	ORPHA:90321
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth...	ORPHA:2108
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o...	OMIM:268400
Sotos Syndrome	Mandibular prognathia, Aggressive behavior, High, narrow palate, Narrow jaw, Narrow palate, High ...	OMIM:117550
Multiple Pterygium-Malignant Hyperthermia Syndrome	Exaggerated cupid's bow, Narrow mouth, Abnormal mandible morphology, Cleft palate, Downturned cor...	ORPHA:2215
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth	ORPHA:2728
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Everted lower lip vermilion, Long...	ORPHA:2067
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi...	ORPHA:521445
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:289157
Gardner Syndrome	Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition	ORPHA:79665
Kabuki Syndrome 2	Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, High palate, Hypodontia	OMIM:300867
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Microdontia, Pulp calcification	OMIM:606895
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion	OMIM:615560
Genitopatellar Syndrome	Delayed eruption of teeth, Long philtrum, Micrognathia	ORPHA:85201
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal...	OMIM:305620
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Supernume...	ORPHA:2136
Kilquist Syndrome	Mandibular prognathia, Wide mouth, Hypoplasia of teeth	OMIM:619080
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Aggressive behavior, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long philtrum	ORPHA:314647
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph...	OMIM:209885
Fgfr2-Related Bent Bone Dysplasia	Natal tooth, Gingival overgrowth, Micrognathia	ORPHA:313855
Emanuel Syndrome	Broad jaw, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Cleft palate, High p...	OMIM:609029
Xfe Progeroid Syndrome	Premature loss of teeth, Enamel hypoplasia	OMIM:610965
Chime Syndrome	Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Cleft palate, Shor...	ORPHA:3474
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate	OMIM:266270
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:94089
Corneodermatoosseous Syndrome	Carious teeth, Abnormal dental enamel morphology, Gingivitis	ORPHA:3194
Scarf Syndrome	Enamel hypoplasia, Long philtrum	OMIM:312830
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Protruding tongue, Gingival overgrowth, High palate, Dy...	OMIM:619777
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Apc-Related Attenuated Familial Adenomatous Polyposis	Odontoma, Supernumerary tooth	ORPHA:247806
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Otopalatodigital Syndrome, Type I	Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted teeth, Narrow m...	OMIM:311300
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Macroglossia, Thick lower lip vermilion, Widely spaced teeth	OMIM:309900
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Cleft...	ORPHA:87
Lead Poisoning	Delayed eruption of teeth, Attention deficit hyperactivity disorder, Anorexia	ORPHA:330015
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Hyperactivity, Orofacial cleft, Na...	ORPHA:77301
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Enamel hypoplasia	OMIM:243150
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow...	ORPHA:769
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Celiac Disease, Susceptibility To, 1	Stomatitis, Enamel hypoplasia, Recurrent aphthous stomatitis	OMIM:212750
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth	OMIM:300952
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,...	OMIM:101800
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Open bite, Abnormality of the ...	ORPHA:1507
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microdontia, Enamel hypoplasia, Retrognathia	OMIM:210720
Ctcf-Related Neurodevelopmental Disorder	Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Thin vermilion border, Shor...	ORPHA:363611
Carpenter Syndrome 1	Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Agenesis of permanent teet...	OMIM:201000
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Thick upper lip ...	OMIM:247200
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Calvarial osteosclerosis, Persistence of primary teeth	ORPHA:93325
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa...	OMIM:300990
Dubowitz Syndrome	Delayed eruption of teeth, Hyperactivity, Micrognathia, Carious teeth, Velopharyngeal insufficien...	OMIM:223370
Autosomal Dominant Robinow Syndrome	Median cleft lip and palate, Micrognathia, Open bite, High, narrow palate, Abnormality of the gin...	ORPHA:3107
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Enamel hypoplasia, Polyphagia	ORPHA:79444
Distal Deletion 12Q	Hyperactivity, Median cleft lip, Micrognathia, High, narrow palate, Supernumerary tooth, Long phi...	ORPHA:96149
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Hypoplastic facial bones, Cleft p...	OMIM:616300
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar flattening, Bif...	OMIM:123790
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Deep philtrum, High palate, Open mouth, Retrognathia	ORPHA:1675
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v...	OMIM:300896
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Hyperactivity, Dental crowding, Impulsivity, Micrognathia, Carious teeth, Abnormal f...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Hyperactivity, Dental crowding, Impulsivity, Micrognathia, Carious teeth, Abnormal f...	ORPHA:353277
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormality of the dentition	ORPHA:2036
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario...	ORPHA:221008
Spondyloenchondrodysplasia	Delayed eruption of teeth, Dental malocclusion	ORPHA:1855
Adnp Syndrome	Thin upper lip vermilion, Oral-pharyngeal dysphagia, Aggressive behavior, Thick lower lip vermili...	ORPHA:404448
Rubinstein-Taybi Syndrome 1	Thin upper lip vermilion, Hyperactivity, Dental crowding, Impulsivity, Micrognathia, Hypoplasia o...	OMIM:180849
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Alveolar ridge overgrowth, Gingival overgrowth, Widely spaced teeth, M...	OMIM:301072
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Thin vermili...	OMIM:601812
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup...	OMIM:614188
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Gingival fibromatosis, Dow...	OMIM:135500
Codas Syndrome	Delayed eruption of teeth, Enamel hypoplasia	OMIM:600373
Pitt-Hopkins Syndrome	Aggressive behavior, Wide mouth, Self-injurious behavior, Thick vermilion border, Short philtrum,...	ORPHA:2896
Blomstrand Lethal Chondrodysplasia	Natal tooth, Protruding tongue, Micrognathia, Long philtrum, Malar flattening	ORPHA:50945
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Gingival overgrowth	ORPHA:508542
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hypoplasia of the maxilla, Delayed eruption of teeth, Gingival overgrowth, Micrognathia	OMIM:259600
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Thick lo...	ORPHA:1465
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Abnormal cementum ...	ORPHA:733
Gapo Syndrome	Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Long philtrum	OMIM:230740
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Aggressive behavior, Micrognathia, Wide mouth, Self-injurious behavior,...	ORPHA:293948
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Microdontia, Advance...	OMIM:615873
Schwartz-Jampel Syndrome	Pursed lips, Micrognathia, Trismus, Supernumerary tooth, Dental malocclusion, Cleft palate, Odont...	ORPHA:800
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Cleft palate, Dysphagia, Down...	OMIM:616268
Peters-Plus Syndrome	Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C...	OMIM:261540
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Delayed eruption of primary teeth, Aggressive behavior, Widely spaced teeth, Bru...	OMIM:617799
Doors Syndrome	Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v...	ORPHA:79500
Kindler Syndrome	Carious teeth, Gingivitis, Periodontitis, Dysphagia, Oral leukoplakia	OMIM:173650
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Median cleft lip, Hypodontia, Accessory oral frenulum	OMIM:617088
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth...	OMIM:615948
Dyskeratosis Congenita, Autosomal Recessive 1	Microdontia, Carious teeth, Oral leukoplakia	OMIM:224230
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Smooth tongue, Oral mucosal blisters	ORPHA:79396
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci...	ORPHA:464
Orofaciodigital Syndrome Type 14	Microretrognathia, Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth, Cleft palat...	ORPHA:434179
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Thick upper lip vermilion, Medi...	OMIM:612651
Smith-Lemli-Opitz Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Supernumerary tooth,...	ORPHA:818
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario...	ORPHA:221016
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Mic...	OMIM:180700
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Enamel hypoplasia, Cleft palate	OMIM:272460
Incontinentia Pigmenti	Delayed eruption of teeth, Oligodontia, Hypodontia, Conical tooth	OMIM:308300
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Craniofa...	OMIM:300373
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Eruption failure, Hi...	OMIM:166250
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Advanced eruption of teeth, Micrognathia	ORPHA:280365
Robinow Syndrome	Dental crowding, Persistence of primary teeth, Micrognathia, Dental malocclusion, Gingival overgr...	ORPHA:97360
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Micrognathia, Abnormality of the dentition, Cleft palate, Microglossia, En...	OMIM:151050
De Barsy Syndrome	Delayed eruption of teeth, Small, conical teeth, High palate, Narrow mouth	ORPHA:2962
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Dental malocclusion, Cleft palate, Narrow palat...	OMIM:101200
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Cleft palate, Tooth malposition	OMIM:309350
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft upper lip, High, narrow ...	OMIM:122470
Trichothiodystrophy	Hypoplasia of mandible relative to maxilla, Carious teeth, High, narrow palate, Enamel hypoplasia...	ORPHA:33364
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har...	OMIM:300166
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Enamel hypoplasia, Polyphagia	ORPHA:79443
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena...	ORPHA:2363
Camurati-Engelmann Disease	Delayed eruption of teeth, Craniofacial osteosclerosis, Carious teeth, Anorexia	ORPHA:1328
Opitz Gbbb Syndrome	Natal tooth, Micrognathia, Cleft lip, Cleft palate, Dysphagia, High palate, Hypodontia, Long phil...	ORPHA:2745
Cockayne Syndrome A	Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hyp...	OMIM:216400
Dubowitz Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Micrognathia, Submucous cleft hard palat...	ORPHA:235
Osteopetrosis With Renal Tubular Acidosis	Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Thick lower lip vermili...	ORPHA:2785
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Tooth abscess	ORPHA:289176
Cranioectodermal Dysplasia 1	High, narrow palate, High palate, Widely spaced teeth, Everted lower lip vermilion, Hypodontia, M...	OMIM:218330
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, Advanced erup...	ORPHA:1519
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Violent behavior, Cleft lip, Thick lower lip vermilion, Cleft palate, ...	OMIM:280000
Microphthalmia, Syndromic 1	Dental crowding, Cleft upper lip, Aggressive behavior, High, narrow palate, Orofacial cleft, Agen...	OMIM:309800
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Macroglossia, Carious teeth	OMIM:253200
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Bifid tongue...	OMIM:268310
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate	OMIM:617925
Stickler Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open...	ORPHA:828
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Oral mucosal blisters, Carious teeth, Dysphagia, Narrow mouth, Enamel hyp...	ORPHA:79408
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Cleft soft palate, Aggressive behavior, Supernumerary tooth, Widely spaced teeth, Dysphagia, Retr...	ORPHA:268261
Nail-Patella Syndrome	Enamel hypoplasia	ORPHA:2614
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Hamartoma of tongue, Lobulated tongue, Median cleft lip and palate	OMIM:269860
Floating-Harbor Syndrome	Restlessness, Impulsivity, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth...	ORPHA:2044
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Hi...	OMIM:603457
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Premature loss of primary teeth	ORPHA:667
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Sinusitis, Carious teeth, Oral ulcer	ORPHA:811
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Carious teeth, High palate, Long philtrum, Microdon...	OMIM:278250
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Ankyloglossia, Micrognathia	OMIM:619525
Pallister-Hall Syndrome	Natal tooth, Microglossia, Cleft palate, Cleft upper lip	OMIM:146510
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Downturned co...	OMIM:620186
Wrinkly Skin Syndrome	Delayed eruption of teeth, Carious teeth, High palate, Small, conical teeth, Smooth philtrum, Lon...	ORPHA:2834
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Carious teeth, Oral ulcer, Gingivitis, Delayed eruption of permanent teeth, Periodontitis	ORPHA:79259
Cockayne Syndrome Type 3	Carious teeth, Enamel hypoplasia	ORPHA:90324
8Q24.3 Microdeletion Syndrome	Branchial cyst, Microretrognathia, Thin upper lip vermilion, Hyperactivity, Mesiodens, Cleft maxi...	ORPHA:508488
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta...	OMIM:182250
Lowe Oculocerebrorenal Syndrome	Enamel hypoplasia, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:309000
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Micrognathia, Abnormality of the gingiva, Wide mouth, Macroglossia, Sh...	ORPHA:798
Cockayne Syndrome	Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion...	ORPHA:191
Cockayne Syndrome B	Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hyp...	OMIM:133540
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Conical tooth, Aggressive behavior, Thick lo...	OMIM:135900
Severe Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Erosion of oral mucosa, Abnormal oral mucosa morphology	ORPHA:79404
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Delayed eruption of teeth, High palate, Widely spaced teeth, Long philtrum, Microdontia	OMIM:143095
Charge Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Cleft palate, Hypopl...	ORPHA:138
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,...	ORPHA:740
Meckel Syndrome, Type 1	Thin upper lip vermilion, Natal tooth, Cleft upper lip, Micrognathia, Cleft palate, Wide mouth, L...	OMIM:249000
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Micrognathia, Hypoplastic facial bones, Dysphagia, Downtu...	OMIM:264090
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Thin upper lip vermilion, Delayed eruption of teeth, Dental crowding, Clef...	OMIM:619503
Restrictive Dermopathy 1	Natal tooth, Micrognathia, Submucous cleft hard palate, Temporomandibular joint ankylosis, Narrow...	OMIM:275210
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Cleft of chin, Cleft palate, Narrow palate, Malar flattening	OMIM:101400
Focal Dermal Hypoplasia	Delayed eruption of teeth, Cleft upper lip, Dental malocclusion, Cleft palate, Oligodontia, Hypod...	OMIM:305600
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Hypoplasia of the nasal bone, Hypoplasia of the ...	ORPHA:93357
Cornelia De Lange Syndrome	Delayed eruption of teeth, Micrognathia, Cleft palate, Downturned corners of mouth, Thin vermilio...	ORPHA:199
Genitopatellar Syndrome	Delayed eruption of teeth, Dysphagia, Micrognathia	OMIM:606170
Restrictive Dermopathy	Natal tooth, Micrognathia, Submucous cleft hard palate, Temporomandibular joint ankylosis, Narrow...	ORPHA:1662
Mowat-Wilson Syndrome	Delayed eruption of teeth, Submucous cleft hard palate, Cleft palate, Widely spaced teeth, Tooth ...	OMIM:235730
Branchiooculofacial Syndrome	Cleft upper lip, Micrognathia, Abnormality of the dentition, Lower lip pit, Cleft of chin, Cleft ...	OMIM:113620
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:261537
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Accessory oral frenulum, Cleft lip, Paroxysmal bursts of laughter...	ORPHA:672
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Thin upper lip vermilion, Abnormality of the dentition, Downturned corners of mouth,...	ORPHA:3455
Mowat-Wilson Syndrome	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:261552
Sotos Syndrome	Abnormality of the dentition, Aggressive behavior, No permanent dentition, Delayed eruption of pe...	ORPHA:821
Pallister-Killian Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Micrognathia, Al...	OMIM:601803

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 Nfic

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 Nfic.

No publications found that use IMPC mice or data for Nfic.

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
Nfic^{tm371855(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Nfic^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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