Gene Summary

Name:
tenascin N
Synonyms:
Tnw,  tenascin-W

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Tnnem1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Tnnem1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Tnnem1(IMPC)Mbp HOM Early adult 0.00
small liver Tnnem1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Tnn mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Microdontia OMIM:301200
Dentinogenesis Imperfecta
Selective tooth agenesis, Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of ... ORPHA:49042
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Otodental Dysplasia
Agenesis of premolar, Taurodontia, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Oral mucosal blisters, Carious teeth ORPHA:79406
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Carious teeth, Enamel hypoplasia OMIM:226650
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Oral mucosal blisters, Atrophic scars, Carious teeth ORPHA:79405
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Dysphagia, Hypodontia OMIM:616029
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:71267
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Epidermolysis Bullosa, Junctional 1B, Severe
Enamel hypoplasia, Failure to thrive, Atrophic scars, Carious teeth OMIM:226700
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Malar flattening, Thin vermilion border ORPHA:139474
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Scarring alopecia of scalp, Oral mucosal blisters, Atrophic scars ORPHA:79402
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Hepatitis, Thick vermilion border, Carious teeth ORPHA:363523
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... ORPHA:2972
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Trichodental Dysplasia
Conical tooth, Hypodontia, Odontodysplasia OMIM:601453
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology, Hepatic failure ORPHA:3196
Epidermolysis Bullosa, Junctional 4, Intermediate
Scarring alopecia of scalp, Dental enamel pits, Carious teeth OMIM:619787
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel OMIM:203550
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Hall-Riggs Mental Retardation Syndrome
U-Shaped upper lip vermilion, Failure to thrive, Hypoplasia of the primary teeth, Microdontia of ... OMIM:234250
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity, Delayed eruption of teeth OMIM:612463
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Cleft palate, Abnormal mandible morphology, Natal tooth OMIM:217150
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Everted lower lip vermilion, Gingival fibromatosis, Delayed eru... ORPHA:2025
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Anodontia OMIM:275450
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... OMIM:228560
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Mandibular prognathia, High palate, Malar flattening OMIM:600991
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... ORPHA:2228
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Pyle Disease
Delayed eruption of teeth, Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Abs... OMIM:265900
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... ORPHA:83451
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Abnormal dental... ORPHA:2325
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding OMIM:600907
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:166272
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Dental enamel pits, Limb joint contracture, Atypical scarring of skin, Scarrin... ORPHA:251393
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Carious teeth OMIM:604922
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Enamel hypoplasia, Scarring alopecia of scalp, Increased connective tissue, Carious teeth OMIM:226670
48,Xyyy Syndrome
High palate, Irregularly spaced teeth, Long philtrum, Enamel hypoplasia, Thick lower lip vermilion ORPHA:99329
Ramon Syndrome
Failure to thrive, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth, Abnormal dent... ORPHA:3019
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Micrognathia OMIM:251190
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... ORPHA:1193
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Catifa Syndrome
Tooth malposition, Cleft palate, Inguinal hernia, Long philtrum, Delayed eruption of teeth, Campt... OMIM:618761
Hemifacial Atrophy, Progressive
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Immunodeficiency 33
Conical tooth, Hypodontia, Delayed eruption of teeth OMIM:300636
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Hypoplasia of teeth, Premature loss of primary teeth, Abnormality of dental morphology ORPHA:248
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Hypophosphatasia, Childhood
Low alkaline phosphatase, Premature loss of primary teeth, Carious teeth OMIM:241510
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Growth Hormone Insensitivity Syndrome
Failure to thrive, Delayed eruption of teeth, Truncal obesity, Everted lower lip vermilion ORPHA:181393
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Hip contracture, Tooth agenesis, Microretrognathia, Cleft palate, Inguinal hernia, M... OMIM:618363
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... ORPHA:477781
Coffin-Siris Syndrome 10
Wide mouth, Persistence of primary teeth OMIM:618506
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Shagreen patch, Hypodontia, Delayed eruption of teeth ORPHA:1816
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Isolated Congenital Hypoglossia/Aglossia
Temporomandibular joint ankylosis, Cleft palate, Micrognathia, Weight loss, Microglossia ORPHA:141152
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Malar flattening, Elevated circulating aspartate aminotransferase concentratio... OMIM:614727
Filippi Syndrome
Decreased body weight, Hypodontia, Thin vermilion border, Short philtrum, Microdontia, Serrated i... OMIM:272440
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Increased body mass index, Delayed eruption of teeth, Omphalocele, Increased body w... OMIM:614450
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth OMIM:613849
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Oligodontia, Joint contracture of the 5th finger, Conical mandibular inci... OMIM:601668
Pili Torti
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:2889
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting... OMIM:273050
Osteogenesis Imperfecta, Type Xi
Abnormality of the dentition, Dentinogenesis imperfecta, Elevated circulating alkaline phosphatas... OMIM:610968
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture OMIM:270200
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Widely spaced teeth, Conical tooth OMIM:613573
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Amelo-Onycho-Hypohidrotic Syndrome
Tooth agenesis, Everted lower lip vermilion, Delayed eruption of teeth, Advanced eruption of teet... ORPHA:1028
Heimler Syndrome 2
Dental crowding, Amelogenesis imperfecta OMIM:616617
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Micrognathia, Microdontia, Open mouth, Delayed eruption of permanent teeth, Abnorma... OMIM:619356
Tricho-Dento-Osseous Syndrome
Taurodontia, Periapical tooth abscess, Microdontia, Enamel hypomineralization, Widely spaced teet... ORPHA:3352
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Natal tooth ORPHA:99811
Jalili Syndrome
Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color ORPHA:1873
Intellectual Disability, Birk-Barel Type
High, narrow palate, Micrognathia, Short philtrum, Congenital finger flexion contractures, Broad ... ORPHA:166108
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Scarring alopecia of scalp, Carious teeth OMIM:612843
Pseudohypoaldosteronism Type 2
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:757
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Mulibrey Nanism
Dental malocclusion, Hypodontia, Enamel hypoplasia, Hypoplastic frontal sinuses, Dental crowding,... OMIM:253250
Brittle Cornea Syndrome 1
Atypical scarring of skin, Dentinogenesis imperfecta OMIM:229200
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300602
Dental Anomalies And Short Stature
Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... OMIM:601216
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Anonychia With Flexural Pigmentation
Carious teeth ORPHA:69125
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion ORPHA:181
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec... ORPHA:1946
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Lipoatrophy, Cachexia, Advanced eruption of teet... ORPHA:1133
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Obesity, Delayed eruption of teeth OMIM:612462
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypoplasia of teeth, Elevated circulating alkaline phosphatase concentration, Carious teeth OMIM:613312
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300431
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Tooth agenesis, Micrognathia, Camptodactyly of finger, Delayed eruption of teeth, Br... ORPHA:2863
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Hypophosphatasia, Adult
Chondrocalcinosis, Low alkaline phosphatase, Premature loss of primary teeth, Premature loss of p... OMIM:146300
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Microdontia OMIM:190320
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hypodontia, Oligodontia, Portal hypertension, Scarring alopecia of scalp, Jaundice, Abnormal dent... ORPHA:59303
Liang-Wang Syndrome
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... OMIM:618729
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature loss of primary teeth, Premature eruption of permanent teeth ORPHA:1811
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Dental malocclusion, Malar flattening OMIM:616108
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Incisor macrodontia, Widely-spaced maxillary central incisors, Thin upper li... OMIM:619719
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Failure to thrive, Malar flattening, Enamel hypoplasia, Bilateral cleft lip and pala... OMIM:618874
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Dental crowding, Overjet, Decreased body weight, Persistence of primary teeth, Hypod... OMIM:618342
Immunodeficiency 9
Stomatitis, Failure to thrive, Amelogenesis imperfecta, Recurrent aphthous stomatitis OMIM:612782
Cockayne Syndrome Type 2
Widely spaced primary teeth, Anodontia, Scarring, Hypoplasia of the primary teeth, Flexion contra... ORPHA:90322
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Cleft palate, Everted lower lip vermilion, Camptodactyly, Enamel hy... OMIM:619980
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Flexion contracture of finger, Supernumerary tooth, Abnormality of the d... ORPHA:69087
Oculocerebrodental Syndrome
Retrognathia, Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia ORPHA:557003
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Acrofacial Dysostosis, Weyers Type
Hypodontia, Abnormality of the dentition, Advanced eruption of teeth, Conical tooth, Solitary med... ORPHA:952
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, Microdontia, En... OMIM:618727
Laron Syndrome
Tooth agenesis, Micrognathia, Delayed eruption of teeth, Truncal obesity, Microdontia ORPHA:633
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Premature loss of teeth, Periodontitis, Dentinogenesis imperfecta, Retrognathia, Delayed eruption... OMIM:619269
Odontochondrodysplasia 1
Long philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth OMIM:184260
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Failure to thrive, Elevated circulating alkaline phosphatase concentration, De... OMIM:264700
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Dental crowding, Thin upper lip vermilion, Low alkaline phosphatase OMIM:618879
Cole-Carpenter Syndrome 2
High palate, Dentinogenesis imperfecta, Microretrognathia OMIM:616294
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Carious teeth OMIM:161000
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Enamel hypoplasia, Oligodontia, Jaundice, Hypodontia OMIM:607626
Tetrasomy 12P
Thick upper lip vermilion, Abnormal soft palate morphology, Everted lower lip vermilion, Cachexia... ORPHA:884
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia OMIM:615502
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Supernumerary tooth, High, narrow palate, Hypodontia, Absent cupid's bow... ORPHA:2919
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Obesity, Delayed eruption of teeth OMIM:103580
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Osteogenesis Imperfecta, Type Iii
Micrognathia, Dentinogenesis imperfecta OMIM:259420
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Elevated circulating alkaline phosphatase concentration, Delayed eruption of t... OMIM:277440
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Elevated circulating alkaline phosphatase conce... OMIM:122860
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Osteoglosphonic Dysplasia
Tooth agenesis, Inguinal hernia, Micrognathia, Multiple unerupted teeth, Failure to thrive in inf... ORPHA:2645
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Corneal scarring, Narrow mouth, Oral mucosal blisters, Flexion contracture, Enamel hypoplasia, At... OMIM:226600
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Xfe Progeroid Syndrome
Corneal scarring, Premature loss of teeth, Failure to thrive, Cachexia, Enamel hypoplasia, Absenc... OMIM:610965
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Elevated circulating alkaline phosphatase concentration, Retrognathia, Elevate... OMIM:614576
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters, Arthrogryposis multiplex congenita, Atrophic scars OMIM:226730
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Narrow mouth, Failure to thrive, Macrodontia of permanent maxillary central ... OMIM:257850
Hall-Riggs Syndrome
Wide mouth, Failure to thrive, Delayed eruption of teeth, Downturned corners of mouth, Thick verm... ORPHA:2107
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Amelogenesis imperfecta OMIM:245660
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Wide mouth, Long philtrum, Delayed eruption of teeth, Dental crowding OMIM:618825
Corneodermatoosseous Syndrome
Hypomature dental enamel OMIM:122440
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Mandibular prognathia OMIM:263540
Odontotrichoungual-Digital-Palmar Syndrome
Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth OMIM:601957
Cranioectodermal Dysplasia
Taurodontia, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Microdontia, ... ORPHA:1515
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Teebi Hypertelorism Syndrome 2
High palate, Cleft palate, Everted lower lip vermilion, Microdontia, Delayed eruption of teeth, T... OMIM:619736
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Taurodontia, Pulp calcification OMIM:211900
Qazi-Markouizos Syndrome
Hypoplasia of teeth, Broad philtrum, High, narrow palate, Open mouth ORPHA:3010
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Hypodontia, Cleft palate, Oligodontia, Enamel hypoplasia, Thick vermilion border... OMIM:619184
Mcdonough Syndrome
Dental malocclusion, Open bite, Micrognathia, Short philtrum, Cachexia, Abnormal palate morpholog... ORPHA:2471
Frank-Ter Haar Syndrome
Wide mouth, Gingival overgrowth, Premature loss of teeth, Inguinal hernia, Short philtrum, Campto... ORPHA:137834
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal palate morphology, Abnormal dental enamel morphology ORPHA:3236
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Dental crowding, Macroglossia, Long philtrum, Delayed eruption of teeth, Camptodacty... OMIM:616354
Sulfite Oxidase Deficiency, Isolated
Sulfite oxidase deficiency, Delayed eruption of teeth OMIM:272300
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup... OMIM:104570
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Malar flattening, Mandibular prognathia, Obesity, Abnormal dental enamel morphology ORPHA:2180
4H Leukodystrophy
Dysphagia, Abnormality of the dentition, Hypodontia, Delayed eruption of teeth ORPHA:289494
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Atrophic scars, Carious teeth ORPHA:79411
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Dental malocclusion, Anodontia, Narrow palate, Supernumerary tooth, Failure to thriv... OMIM:264475
Intermediate Osteopetrosis
Dental malocclusion, Elevated circulating alkaline phosphatase concentration, Osteosclerosis of t... ORPHA:210110
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Mandibular prognathia, Advanced eruption of teeth, Small for gestational age OMIM:262190
Bone Marrow Failure Syndrome 3
Failure to thrive, Hypodontia, Micrognathia, Microdontia, Enamel hypoplasia, Hernia, Amelogenesis... OMIM:617052
X-Linked Hypophosphatemia
Elevated circulating alkaline phosphatase concentration, Cellulitis, Odontodysplasia, Enthesitis,... ORPHA:89936
Blepharophimosis-Impaired Intellectual Development Syndrome
Dental malocclusion, Wide mouth, Flexion contracture, Short philtrum, Microdontia, Enamel hypopla... OMIM:619293
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Micrognathia, Microdontia, Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors OMIM:610706
Pycnodysostosis
Obtuse angle of mandible, Dental malocclusion, High palate, Persistence of primary teeth, Hypodon... ORPHA:763
Osteogenesis Imperfecta, Type X
Micrognathia, Inguinal hernia, Dentinogenesis imperfecta, Malar flattening OMIM:613848
X-Linked Non-Syndromic Intellectual Disability
Small for gestational age, Long philtrum, Delayed eruption of teeth, Obesity, Thin upper lip verm... ORPHA:777
Specific Granule Deficiency 2
Conical tooth, Failure to thrive, Amelogenesis imperfecta, Tooth malposition OMIM:617475
Calvarial Doughnut Lesions With Bone Fragility
Elevated circulating alkaline phosphatase concentration, Carious teeth OMIM:126550
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Thin vermilion border, Micrognathia, Delayed eruption of teeth, Hypoplasia of the ma... OMIM:601812
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth ORPHA:3238
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Widely spaced teeth, Delayed eruption of teeth, Thick lower lip vermilion OMIM:619797
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Failure to thrive, Delayed eruption of teeth, Elevated alkaline phosphatase of... ORPHA:289157
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Hypodontia, Flexion contracture, Carious teeth OMIM:612079
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,... OMIM:214150
Coffin-Siris Syndrome 3
Delayed eruption of permanent teeth, Macroglossia, Wide mouth OMIM:614608
Craniometadiaphyseal Dysplasia
High palate, Elevated circulating alkaline phosphatase concentration, Malar flattening, Microdont... OMIM:269300
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Scarf Syndrome
Inguinal hernia, Long philtrum, Enamel hypoplasia, Umbilical hernia, Hypocalcification of dental ... ORPHA:3134
48,Xxyy Syndrome
Taurodontia, Cleft palate, Open bite, Inguinal hernia, Delayed eruption of teeth, Carious teeth, ... ORPHA:10
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Acrootoocular Syndrome
Dental malocclusion, Anodontia, Failure to thrive, Supernumerary tooth, High, narrow palate, Smal... ORPHA:2980
Craniometaphyseal Dysplasia, Autosomal Recessive
Broad alveolar ridges, Mandibular prognathia, Delayed eruption of permanent teeth, Facial hyperos... OMIM:218400
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Nance-Horan Syndrome
Mulberry molar, Supernumerary maxillary incisor, Diastema, Screwdriver-shaped incisors OMIM:302350
Taurodontism
Taurodontia OMIM:272700
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta OMIM:166200
Temtamy Preaxial Brachydactyly Syndrome
Cleft palate, Diastema, Microdontia, Deep philtrum, Talon cusp OMIM:605282
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Prominent frontal sinuses, Persistence of primary teeth, Malar flattening, Short man... OMIM:170390
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormal palate morphology, Abnormality of the dentition, Carious teeth ORPHA:3270
Immunodeficiency 49
Micrognathia, Short philtrum, Natal tooth, Umbilical hernia OMIM:617237
Short Syndrome
Malar flattening, Inguinal hernia, Abnormality of the dentition, Microdontia, Lipodystrophy, Abno... ORPHA:3163
Ohdo Syndrome
Narrow mouth, Thin vermilion border, Micrognathia, Long philtrum, Widely spaced teeth, Hypoplasia... OMIM:249620
Cockayne Syndrome Type 1
Widely spaced primary teeth, Anodontia, Scarring, Hypoplasia of the primary teeth, Failure to thr... ORPHA:90321
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Seckel Syndrome 1
High palate, Dental malocclusion, Cleft palate, Micrognathia, Enamel hypoplasia, Elbow flexion co... OMIM:210600
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Tooth agenesis, Narrow palate, Congenital diaphragmatic hernia, Inguinal hernia, Micrognathia, Mu... ORPHA:2063
Usher Syndrome Type 2
Abnormality of dental color, Microdontia, Abnormal dental enamel morphology, Carious teeth ORPHA:231178
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Wide mouth, Failure to thrive, Abnormality of the dentition, Bifid uvula, Enamel hypoplasia OMIM:615802
Kohlschutter-Tonz Syndrome-Like
Decreased body weight, Delayed eruption of teeth, Carious teeth, Enamel hypoplasia, Widely spaced... OMIM:619229
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth ORPHA:2501
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Dysosteosclerosis
Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:1782
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Carious teeth, Incre... OMIM:613684
Eiken Syndrome
Eruption failure, Decreased body weight, Persistence of primary teeth, Elevated circulating alkal... OMIM:600002
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Oligodontia, Hypodontia, Natal tooth OMIM:601345
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Eem Syndrome
Microdontia, Carious teeth, Widely spaced teeth, Abnormality of dental morphology, Selective toot... ORPHA:1897
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... OMIM:619658
Short Syndrome
Dental malocclusion, Lipoatrophy, Hypodontia, Inguinal hernia, Small for gestational age, Microgn... OMIM:269880
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth ORPHA:375
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Dental malocclusion, Narrow mouth, Open bite, Abnormality of dental eruption, Campto... ORPHA:1327
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Persistence of primary teeth OMIM:147060
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of primary teeth, Hiatus hernia, Umbilical hernia, Dental crowding, Overweight OMIM:619769
Mandibuloacral Dysplasia
High palate, Dental crowding, Increased adipose tissue around the neck, Lipoatrophy, Micrognathia... ORPHA:2457
Temtamy Syndrome
Dental crowding, Hypoplasia of teeth, Micrognathia, Long philtrum OMIM:218340
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Coffin-Siris Syndrome 2
High palate, Wide mouth, Cleft palate, Macroglossia, Inguinal hernia, Short philtrum, Long philtr... OMIM:614607
Pachyonychia Congenita
Failure to thrive, Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia ORPHA:2309
Three M Syndrome 2
High palate, Dental malocclusion, Malar flattening, Small for gestational age, Long philtrum, Del... OMIM:612921
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... OMIM:614669
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... OMIM:620010
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Tooth Agenesis, Selective, X-Linked, 1
Anodontia, Agenesis of molar, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of later... OMIM:313500
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Long philtrum, Delayed eruption of teeth, Obesity,... OMIM:157980
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Small for gestational age, Micrognathia, Delayed eruption of teeth, Truncal ob... ORPHA:73272
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, High, narrow palate, Small for gestational ag... OMIM:216550
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Hypodontia, Joint contracture of the hand, Camptodactyly of fin... OMIM:612350
Branchioskeletogenital Syndrome
Premature loss of teeth, Thin vermilion border, Abnormality of the dentition, Short philtrum, Bif... ORPHA:1299
Pycnodysostosis
Narrow palate, Persistence of primary teeth, Hypodontia, Micrognathia, Carious teeth, Delayed eru... OMIM:265800
Aarskog-Scott Syndrome
Cleft upper lip, Cleft palate, Everted lower lip vermilion, Inguinal hernia, Abnormality of the d... ORPHA:915
Mandibulofacial Dysostosis With Alopecia
Cleft palate, Everted lower lip vermilion, Glossoptosis, Micrognathia, Hypoplasia of the maxilla,... OMIM:616367
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth, Carious teeth ORPHA:3145
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Familial Expansile Osteolysis
Premature loss of teeth, Elevated circulating alkaline phosphatase concentration, Fragile teeth OMIM:174810
Char Syndrome
No permanent dentition, Persistence of primary teeth, Triangular mouth, Malar flattening, Everted... ORPHA:46627
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Narrow mouth, Decreased body weight, Small for gestational age, Micrognathia, Short philtrum, Oli... ORPHA:391408
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Celiac Disease, Susceptibility To, 1
Failure to thrive, Enamel hypoplasia, Stomatitis, Elevated hepatic transaminase, Recurrent aphtho... OMIM:212750
Malan Syndrome
Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o... OMIM:614753
Raine Syndrome
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Elevated circulating alkaline phospha... OMIM:259775
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Helsmoortel-Van Der Aa Syndrome
Wide mouth, Everted lower lip vermilion, Long philtrum, Advanced eruption of teeth, Widely spaced... OMIM:615873
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Narrow mouth, Tooth malposition, Hypodontia, Micrognathia, Abnormality ... ORPHA:363417
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Brachydactyly, Type B1
Delayed eruption of permanent teeth, Joint contracture of the hand, Camptodactyly OMIM:113000
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Natal tooth OMIM:617337
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypodontia, Oligodontia, Delayed eruption of teeth, Natal tooth, Dysphagia OMIM:614381
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Premature loss of teeth, Narrow mouth, Flexion contracture, Micrognathia, Loss of tr... OMIM:608612
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... OMIM:616278
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Amelogenesis Imperfecta, Type Ig
Gingival overgrowth, Dagger-shaped pulp calcifications, Gingival fibromatosis, Delayed eruption o... OMIM:204690
Codas Syndrome
Abnormality of dental morphology, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:1458
Tremor-Ataxia-Central Hypomyelination Syndrome
Dysphagia, Oligodontia, Hypodontia, Delayed eruption of teeth ORPHA:447896
Temple-Baraitser Syndrome
High palate, Wide mouth, Gingival overgrowth, Malar flattening, Everted lower lip vermilion, Long... ORPHA:420561
Lowry-Maclean Syndrome
High, narrow palate, Cleft palate, Congenital diaphragmatic hernia, Retrognathia, Micrognathia, I... ORPHA:2409
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, Long philtrum, Delayed e... ORPHA:50814
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Tongue fasciculations, Elevated circulating alkaline phosphatase concentration ORPHA:329475
Seckel Syndrome
Cachexia, Micrognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:808
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Dysphagia, Micrognathia, Ankle flexion contracture, Natal tooth OMIM:617802
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Oculofaciocardiodental Syndrome
Tooth malposition, Cleft palate, Flexion contracture of the 2nd toe, Abnormality of the dentition... ORPHA:2712
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Acrocraniofacial Dysostosis
Micrognathia, Short philtrum, Cleft palate, Natal tooth OMIM:201050
Intestinal Dysmotility Syndrome
High palate, Failure to thrive, Broad philtrum, Weight loss OMIM:620045
Hypophosphatemic Rickets
Failure to thrive, Elevated circulating alkaline phosphatase concentration, Periapical tooth absc... ORPHA:437
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Narrow palate, Macrodontia of permanent maxillary central incisor, Malar flattenin... ORPHA:364028
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Acrofacial Dysostosis, Catania Type
Carious teeth OMIM:101805
Oculodentodigital Dysplasia
Cleft upper lip, Premature loss of teeth, Taurodontia, Cleft palate, Microdontia, Carious teeth, ... OMIM:164200
Cherubism
Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Macular scar, Oligodontia, Jaw swe... OMIM:118400
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Chst3-Related Skeletal Dysplasia
Long philtrum, Delayed eruption of teeth, Flexion contracture ORPHA:263463
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Familial Multiple Lipomatosis
Lipodystrophy, Odontogenic keratocysts of the jaw, Premature eruption of permanent teeth, Increas... ORPHA:199276
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Mandibular osteomyelitis, Persistence of primary teeth, Carious teeth OMIM:259710
Momo Syndrome
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Long philtrum, Delayed ... ORPHA:2563
Oromandibular Dystonia
Abnormality of the temporomandibular joint, Dysphagia, Weight loss, Abnormal lip morphology, Abno... ORPHA:93958
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormal palate morphology, Cachexia, Long philtrum, Microretrognathia ORPHA:1389
Hamamy Syndrome
High palate, Dental malocclusion, Wide mouth, Hypodontia, Inguinal hernia, Everted lower lip verm... OMIM:611174
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Widely spaced teeth, Hypoplasia of teeth, Microdontia, Cleft palate ORPHA:2728
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Elevated circulating alkaline phosphatase concentration ORPHA:89937
Scarf Syndrome
Enamel hypoplasia, Inguinal hernia, Long philtrum, Umbilical hernia OMIM:312830
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Hypodontia, Cleft palate, Macrodontia, Vaginal hernia, Mandibular prognathia, Abnormal dental ena... ORPHA:2916
Oculotrichodysplasia
Widely spaced primary teeth, Agenesis of permanent teeth, Microdontia of primary teeth, Carious t... OMIM:257960
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, High, narrow palate OMIM:619692
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... OMIM:214900
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Omphalocele, Interface hepatitis OMIM:243150
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Cole-Carpenter Syndrome
Micrognathia, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2050
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Taurodontia, High, narrow palate, Short philtrum, Macrodontia, Delayed eruption of teeth ORPHA:3214
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Trisomy 9P
Downturned corners of mouth, Impacted tooth, Dental crowding, Non-midline cleft lip ORPHA:236
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Elevated circulating alkaline phosphatase concentration, Increased circulating... OMIM:259700
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Eruption failure, Narrow mouth, Hypodontia, Micrognathia, De... OMIM:619322
Osteogenesis Imperfecta, Type Viii
Dentinogenesis imperfecta, Inguinal hernia OMIM:610915
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Trichothiodystrophy 3, Photosensitive
Eclabion, Failure to thrive, Natal tooth, Carious teeth OMIM:616395
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Cellulitis, Advanced eruption of teeth, Lipodystrophy, Loss of subcutaneous adipose ... ORPHA:2348
Pachyonychia Congenita 2
Angular cheilitis, Oral leukoplakia, Natal tooth OMIM:167210
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Chronic active hepatitis OMIM:240300
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619868
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Oral mucosal blisters, Enamel hypoplasia, Smooth tongue, Atrophic scars, Scarring ORPHA:79396
Flynn-Aird Syndrome
Cachexia, Carious teeth ORPHA:2047
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Enamel hypoplasia, Microdontia, Truncal obesity OMIM:210720
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Dental malocclusion, Mandibular prognathia, Abnormality of the dentition ORPHA:1858
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia OMIM:613313
Kilquist Syndrome
Mandibular prognathia, Hypoplasia of teeth, Wide mouth OMIM:619080
48,Xxxy Syndrome
Taurodontia, Cleft palate, Open bite, Inguinal hernia, Delayed eruption of teeth, Carious teeth, ... ORPHA:96263
Cleidocranial Dysplasia 1
High palate, Narrow palate, Supernumerary tooth, High, narrow palate, Malar flattening, Cleft pal... OMIM:119600
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Polyphagia, Abnormal dental enamel morphology ORPHA:251004
Knobloch Syndrome 2
Enamel hypoplasia, Micrognathia OMIM:618458
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Narrow mouth, Lipoatrophy, Flexion contracture, Micrognathia... ORPHA:1979
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Anodontia, Hypodontia, Abnormality of the dentition, Micrognathia, Hypoplasia of... ORPHA:3253
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Supernumerary tooth, Persistence of primary teeth, High palate OMIM:619752
Mucopolysaccharidosis Type 4
Wide mouth, Abnormality of the dentition, Grayish enamel, Carious teeth, Hernia, Abnormal dental ... ORPHA:582
Dysostosis, Stanescu Type
Tooth agenesis, Macroglossia, Abnormality of the dentition, Hypoplasia of the zygomatic bone, Car... ORPHA:1798
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Persistence of primary teeth, Malar flattening, Everted lower lip v... OMIM:610253
Corneodermatoosseous Syndrome
Gingivitis, Abnormal dental enamel morphology, Carious teeth ORPHA:3194
Enamel-Renal Syndrome
Gingival overgrowth, Delayed eruption of teeth, Abnormality of dental color, Yellow-brown discolo... ORPHA:1031
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Camptodactyly of finger, Taurodontia, Abnormal dental enamel morpho... ORPHA:3220
Isolated Cleft Lip
Velopharyngeal insufficiency, Hypodontia, Small for gestational age, Macrodontia, Supernumerary m... ORPHA:199302
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth OMIM:609638
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Autosomal Recessive Spastic Paraplegia Type 77
Retrognathia, Neuromuscular dysphagia, Macrodontia of permanent maxillary central incisor ORPHA:466722
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Hypoplasia of teeth OMIM:234050
Kleefstra Syndrome Due To A Point Mutation
Failure to thrive, Inguinal hernia, Abnormality of the dentition, Large for gestational age, Umbi... ORPHA:261652
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters ORPHA:79403
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Johanson-Blizzard Syndrome
Failure to thrive, Abnormality of the dentition, Oligodontia, Delayed eruption of teeth, Microdontia ORPHA:2315
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Elevated circulating alkaline phosphatase concentration, Umbilical hernia OMIM:606893
Pde4D Haploinsufficiency Syndrome
Malar flattening, Micrognathia, Short philtrum, Long philtrum, Hypoplasia of the maxilla, Mandibu... ORPHA:439822
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Oligodontia, Supernumerary tooth ORPHA:1264
Trichorhinophalangeal Syndrome, Type I
Dental malocclusion, Narrow palate, Micrognathia, Long philtrum, Delayed eruption of teeth, Micro... OMIM:190350
Mucopolysaccharidosis, Type Ivb
Wide mouth, Inguinal hernia, Decreased beta-galactosidase activity, Grayish enamel, Carious teeth... OMIM:253010
Trichodermodysplasia-Dental Alterations Syndrome
Abnormality of dental morphology, Tooth agenesis, Supernumerary tooth, Delayed eruption of teeth ORPHA:3353
Glycosylphosphatidylinositol Biosynthesis Defect 11
Tented upper lip vermilion, Elevated circulating alkaline phosphatase concentration, Macroglossia OMIM:616025
Microcephalic Primordial Dwarfism, Montreal Type
Lipoatrophy, Open bite, Micrognathia, Carious teeth, Shagreen patch, Abnormal palate morphology ORPHA:2617
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Tented upper lip vermilion, Incisor macrodontia, Abnormality of primary teeth, Thin ... ORPHA:438216
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Obesity, Polyphagia, Delayed eruption of teeth ORPHA:79444
Blepharo-Cheilo-Odontic Syndrome
Bilateral cleft lip and palate, Conical tooth, Carious teeth ORPHA:1997
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Narrow mouth, Narrow palate, Thick lower lip vermilion, Carious teeth ORPHA:457365
Developmental And Epileptic Encephalopathy 100
High palate, Gingival overgrowth, Micrognathia, Microdontia, Enamel hypoplasia, Bilateral camptod... OMIM:619777
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,... OMIM:613812
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta OMIM:610319
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Retrognathia, Abnormal palate morphology, Malar flattening, Carious teeth ORPHA:1390
Melnick-Needles Syndrome
Tooth malposition, Micrognathia, Delayed eruption of teeth, Omphalocele, Craniofacial hyperostosis ORPHA:2484
Acrodysostosis
Open bite, Delayed eruption of teeth, Hypoplasia of the maxilla, Open mouth, Mandibular prognathia ORPHA:950
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Chronic Mucocutaneous Candidiasis
Cheilitis, Hepatitis, Abnormal lip morphology, Abnormal dental enamel morphology ORPHA:1334
Barber-Say Syndrome
Wide mouth, Failure to thrive, Delayed eruption of teeth ORPHA:1231
Costello Syndrome
Narrow palate, Macroglossia, Abnormality of the dentition, Failure to thrive in infancy, Abnormal... ORPHA:3071
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Cleidocranial Dysplasia
Sinusitis, Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glossoptosis, Micro... ORPHA:1452
Orofaciodigital Syndrome I
High palate, Cleft upper lip, Alveolar ridge overgrowth, Supernumerary tooth, Microretrognathia, ... OMIM:311200
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization, Elevated circulating alkaline phosphatase concentration OMIM:307800
Arthrogryposis And Ectodermal Dysplasia
Cleft upper lip, Joint contracture of the hand, Cleft palate, Oligodontia, Oral cleft, Camptodact... OMIM:601701
Orofacial Cleft 15
Palate fistula, Agenesis of lateral incisor, Bilateral cleft lip, Bilateral cleft palate OMIM:616788
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Premature loss of teeth, Reduced subcutaneous adipose tissue, Increased adipose tiss... OMIM:248370
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Emanuel Syndrome
High palate, Multiple joint contractures, Failure to thrive, Tooth malposition, Cleft palate, Con... ORPHA:96170
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypocalcification of dental enamel, Amelogenesis imperfecta ORPHA:169090
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Codas Syndrome
Enamel hypoplasia, Delayed eruption of teeth, Omphalocele OMIM:600373
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Christianson Syndrome
Cachexia, Mandibular prognathia, Dysphagia, Arthrogryposis multiplex congenita ORPHA:85278
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Failure to thrive, Jaundice, Carious teeth OMIM:612714
Multiple Pterygium-Malignant Hyperthermia Syndrome
Narrow mouth, Cleft palate, Inguinal hernia, Prominence of the zygomatic bone, Camptodactyly of f... ORPHA:2215
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Maxillary lateral incisor microdontia, Thin vermilion border, Micrognathia, ... ORPHA:73223
Autosomal Dominant Hyper-Ige Syndrome
Cellulitis, Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Gingivitis ORPHA:2314
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Delayed eruption of teeth, Bifid u... ORPHA:2780
Acute Myelomonocytic Leukemia
Weight loss, Abnormality of the gingiva ORPHA:517
Emanuel Syndrome
High palate, Congenital diaphragmatic hernia, Cleft palate, Inguinal hernia, Micrognathia, Long p... OMIM:609029
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice ORPHA:75234
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Failure to thrive, Eruption failure, Micrognathia, Abnormality of the dentition, L