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
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
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
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia OMIM:226650
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta ORPHA:71267
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Atrophic scars, Enamel hypoplasia, Failure to thrive OMIM:226700
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition ORPHA:2222
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters ORPHA:79402
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Trichodental Dysplasia
Odontodysplasia, Hypodontia, Conical tooth OMIM:601453
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia, Hepatic failure ORPHA:3196
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Scarring alopecia of scalp, Dental enamel pits OMIM:619787
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Thick vermilion border, Hepatitis ORPHA:363523
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture OMIM:203550
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Hall-Riggs Syndrome
Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape... OMIM:234250
17Q11.2 Microduplication Syndrome
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology ORPHA:139474
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition ORPHA:2026
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious... OMIM:618363
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
48,Xyyy Syndrome
Impulsivity, Aggressive behavior, Thick lower lip vermilion, Irregularly spaced teeth, High palat... ORPHA:99329
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate OMIM:217150
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia OMIM:613576
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia ORPHA:79405
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... ORPHA:2025
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia, Obesity OMIM:612463
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... ORPHA:2228
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue OMIM:226670
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Catifa Syndrome
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Long phi... OMIM:618761
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia ORPHA:79406
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... OMIM:613849
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Elevated circulating alkaline phosphatase concentration, Ectopic tooth eruption... OMIM:606893
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia, Dysphagia OMIM:616029
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Odontochondrodysplasia
Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta ORPHA:166272
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... OMIM:265900
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Enamel hypoplasia ORPHA:2643
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hypodontia ORPHA:63442
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... ORPHA:251393
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta OMIM:301014
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat... ORPHA:3019
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters ORPHA:79411
Atkin-Flaitz Syndrome
Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Maxil... ORPHA:1193
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Hypophosphatasia, Childhood
Carious teeth, Low alkaline phosphatase, Premature loss of primary teeth OMIM:241510
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Immunodeficiency 33
Delayed eruption of teeth, Hypodontia, Conical tooth OMIM:300636
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Temporomandibular joint ankylosis, Cleft palate, Weight loss, Microglossia ORPHA:141152
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth ORPHA:248
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Abnormality of alkaline phosphatase level, Head-banging, Delayed eruption of perman... OMIM:619356
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:614727
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Hypodontia, Shagreen patch ORPHA:1816
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Conical incisor, Enamel hypoplasia OMIM:614564
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture OMIM:270200
Intellectual Disability, Birk-Barel Type
Hyperactivity, Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow pal... ORPHA:166108
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body mass index, Omphalocele, Increased body weight, Macrogl... OMIM:614450
Filippi Syndrome
Thin vermilion border, Short philtrum, Hypodontia, Decreased body weight, Microdontia, Serrated i... OMIM:272440
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Decreased body weight, Hyperactivity, Dental crowding, Persistence of primary teeth, Micrognathia... OMIM:618342
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Widely spaced teeth, Conical tooth OMIM:613573
Heimler Syndrome 2
Dental crowding, Amelogenesis imperfecta OMIM:616617
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Seckel Syndrome 5
Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename... OMIM:613823
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Neuronal Intestinal Pseudoobstruction
Natal tooth, Congenital diaphragmatic hernia ORPHA:99811
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... ORPHA:3352
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, Aggressive behavior, Wide mouth, High palate, Attenti... OMIM:618825
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Rubinstein-Taybi Syndrome 2
Hyperactivity, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High ... OMIM:613684
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra... OMIM:300602
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Mulibrey Nanism
Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo... OMIM:253250
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia OMIM:612843
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta OMIM:615905
Brittle Cornea Syndrome 1
Atypical scarring of skin, Dentinogenesis imperfecta OMIM:229200
Snijders Blok-Campeau Syndrome
Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Attention deficit hyperactivity d... OMIM:618205
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... OMIM:601216
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Cenani-Lenz Syndactyly Syndrome
Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia OMIM:212780
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,... ORPHA:1133
Osteogenesis Imperfecta, Type Xi
Elevated circulating alkaline phosphatase concentration, Dentinogenesis imperfecta OMIM:610968
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla... OMIM:619719
Hypophosphatasia, Adult
Premature loss of permanent teeth, Premature loss of primary teeth, Carious teeth, Low alkaline p... OMIM:146300
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Anonychia With Flexural Pigmentation
Carious teeth ORPHA:69125
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion ORPHA:181
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Elevated circulating alkaline phosphatase concentration, Hypoplasia of teeth OMIM:613312
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Abnormal dental enamel morphology, Portal hypertension, Scarring alopecia of scalp, Jaundice, Oli... ORPHA:59303
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... OMIM:618729
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To... ORPHA:2863
Trichodentoosseous Syndrome
Microdontia, Taurodontia, Widely spaced teeth OMIM:190320
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
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Keloids, Enamel ... ORPHA:79410
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Recessive Dystrophic Epidermolysis Bullosa Inversa
Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters ORPHA:79409
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... OMIM:619736
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Thin upper lip vermilion, Dental crowding, Low alkaline phosphatase OMIM:618879
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
Braddock-Carey Syndrome 1
Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, Camptod... OMIM:619980
Cockayne Syndrome Type 2
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s... ORPHA:90322
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli... OMIM:618727
Cole-Carpenter Syndrome 1
Microdontia, Dentinogenesis imperfecta, Micrognathia OMIM:112240
Odontochondrodysplasia 1
Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum OMIM:184260
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... ORPHA:952
Oculoskeletodental Syndrome
Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia ORPHA:557003
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Enamel hypoplasia, Obesity OMIM:612462
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia OMIM:615502
Laron Syndrome
Delayed eruption of teeth, Micrognathia, Tooth agenesis, Truncal obesity, Microdontia ORPHA:633
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti... ORPHA:69087
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Cachexia, Abnormal soft palate morphology, D... ORPHA:884
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity, Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathi... OMIM:619269
Osteogenesis Imperfecta, Type Xiii
Thin vermilion border, Decreased body weight, Umbilical hernia, Dentinogenesis imperfecta, Long p... OMIM:614856
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... ORPHA:2919
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Carious teeth, Elevated circulating alkaline phosphatase concentration... OMIM:277440
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia OMIM:259420
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Enamel hypoplasia, Obesity OMIM:103580
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Enamel hypoplasia, Widely spaced teeth OMIM:620193
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Oral mucosal blisters, Flexion contracture, Corneal scarring, Dysphagia, Atrophic scars, Narrow m... OMIM:226600
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Agitation, Sulfite oxidase deficiency OMIM:272300
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Elevated circulating alkaline phosphatase conce... OMIM:122860
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Tongue thrusting, Pica, Downturned corners of mouth, Stereotypical body rocking, E... OMIM:617865
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Cachexia, Absence of subcutaneous fat, Corneal scarring, Premature... OMIM:610965
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Osteoglosphonic Dysplasia
Inguinal hernia, Failure to thrive in infancy, Micrognathia, Tooth agenesis, Multiple unerupted t... ORPHA:2645
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Atrophic scars, Enamel hypoplasia, Arthrogryposis multiplex congenita, Oral mucosal blisters OMIM:226730
Blepharophimosis-Impaired Intellectual Development Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Flexion contracture, Dental malocclusion, Wide... OMIM:619293
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Retrognathia, Elevated circulating alkaline phosphatase concentrat... OMIM:614576
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Cole-Carpenter Syndrome 2
Microretrognathia, High palate, Dentinogenesis imperfecta OMIM:616294
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive, Elevated circulating alkaline ph... OMIM:264700
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... ORPHA:2107
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization ORPHA:494444
Qazi-Markouizos Syndrome
High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth ORPHA:3010
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphology, Open bi... ORPHA:10
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormality of the dentition, Wide mouth, Inappropriate laughter, Enamel hypoplasia, Failure to t... OMIM:615802
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v... ORPHA:1515
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Abnormal palate morphology ORPHA:3236
Mcdonough Syndrome
Mandibular prognathia, Cachexia, Micrognathia, Open bite, Dental malocclusion, Short philtrum, Ab... ORPHA:2471
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Flexion contracture, Accessory oral frenulum, Hypoplasia of teeth ORPHA:88630
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingi... ORPHA:137834
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
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Pulp calcification, Taurodontia, Enamel hypoplasia OMIM:211900
4H Leukodystrophy
Delayed eruption of teeth, Hypodontia, Dysphagia, Abnormality of the dentition ORPHA:289494
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Amelogenesis imperfecta OMIM:245660
Immunodeficiency 9
Stomatitis, Failure to thrive, Recurrent aphthous stomatitis, Amelogenesis imperfecta OMIM:612782
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Abnormal dental enamel morphology, Obesity, High palate, Malar flattening ORPHA:2180
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth OMIM:619797
Calvarial Doughnut Lesions With Bone Fragility
Carious teeth, Elevated circulating alkaline phosphatase concentration OMIM:126550
Nance-Horan Syndrome
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor OMIM:302350
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Advanced eruption of teeth, High palate, Small for gestational age OMIM:262190
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors OMIM:610706
Specific Granule Deficiency 2
Amelogenesis imperfecta, Tooth malposition, Failure to thrive, Conical tooth OMIM:617475
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis OMIM:217080
Seckel Syndrome 1
Hyperactivity, Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbo... OMIM:210600
Usher Syndrome Type 2
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology ORPHA:231178
Pycnodysostosis
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... ORPHA:763
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Ele... OMIM:269300
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Failure to thrive, Small for gestational age, Micrognathia, Carious te... OMIM:214150
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Carious teeth, Overweight, Obesity, Stereotypical hand wringing, Dysph... OMIM:619229
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth ORPHA:3238
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... OMIM:257850
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive, Elevated alkaline phosphatase of... ORPHA:289157
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Portal hypertension, Jaundice, Oligodontia, Hypodontia, Enamel hypoplasia, Hepatic failure OMIM:607626
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r... OMIM:218400
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W... OMIM:618067
Acrootoocular Syndrome
Delayed eruption of teeth, Small for gestational age, Micrognathia, Grayish enamel, High, narrow ... ORPHA:2980
X-Linked Hypophosphatemia
Odontodysplasia, Enthesitis, Elevated circulating alkaline phosphatase concentration, Cellulitis,... ORPHA:89936
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Inguinal hernia, Hyperactivity, Thick lower lip vermilion, Cleft palat... OMIM:614607
Scarf Syndrome
Inguinal hernia, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcification of dental ... ORPHA:3134
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Hyperactivity, Small for gestational age, Micrognathia, Truncal obesit... ORPHA:73272
Intermediate Osteopetrosis
Abnormal dental morphology, Abnormality of the dentition, Dental malocclusion, Elevated circulati... ORPHA:210110
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia OMIM:605282
Taurodontism
Taurodontia OMIM:272700
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Slender build, Aggressive behavior, Narrow palate, Short upper lip, Thick ... ORPHA:364028
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Abnormal palate morphology, Abnormality of the dentition ORPHA:3270
Rapp-Hodgkin Syndrome
Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c... OMIM:129400
Cockayne Syndrome Type 1
Mandibular prognathia, Elevated hepatic transaminase, Foot joint contracture, Scarring, Delayed e... ORPHA:90321
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... OMIM:170390
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth ORPHA:375
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Aggressive behavior, Obesity, Narrow palate, Hypoplasia of teeth, Wide mouth, Short... OMIM:620250
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Narro... ORPHA:2063
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Wide mouth, Macroglossia, Delayed er... OMIM:614608
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Hiatus hernia, Overweight, Persistence of primary teeth, Umbilical hernia OMIM:619769
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth, Flexion contracture OMIM:617105
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Short Syndrome
Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ... ORPHA:3163
Ohdo Syndrome
Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narrow mouth, Smoo... OMIM:249620
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Abnormality of the dentition ORPHA:2501
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Dental crowding, Macroglossia, Camptodactyly, High palate, Thick vermi... OMIM:616354
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Familial Expansile Osteolysis
Elevated circulating alkaline phosphatase concentration, Premature loss of teeth, Fragile teeth OMIM:174810
Eiken Syndrome
Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee... OMIM:600002
Aarskog-Scott Syndrome
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Hypoplasia ... ORPHA:915
Pachyonychia Congenita
Natal tooth, Angular cheilitis, Advanced eruption of teeth, Failure to thrive, Oral leukoplakia ORPHA:2309
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta OMIM:166200
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
High palate, Persistence of primary teeth OMIM:147060
Eem Syndrome
Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo... ORPHA:1897
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Oligodontia, Hypodontia OMIM:601345
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology ORPHA:1782
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Weight loss, Recurrent aphthous stomatitis, Stomatitis, Enamel hyp... OMIM:212750
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Camptodactyly of finger, Open bite, Abnormality of dental eruption, Dental... ORPHA:1327
Temtamy Syndrome
Dental crowding, Micrognathia, Hypoplasia of teeth, Long philtrum, Self-mutilation OMIM:218340
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou... ORPHA:2457
Osteogenesis Imperfecta, Type Xvii
Dentinogenesis imperfecta OMIM:616507
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Taurodontia, ... OMIM:157980
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:620010
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Three M Syndrome 2
Delayed eruption of teeth, Small for gestational age, Dental malocclusion, Thick vermilion border... OMIM:612921
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:3145
Pycnodysostosis
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... OMIM:265800
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Camptodactyly of finger, Cigarette-paper scars, Dental malocclusion, H... OMIM:612350
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Cohen Syndrome
Small for gestational age, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short ph... OMIM:216550
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... ORPHA:363417
Branchioskeletogenital Syndrome
Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m... ORPHA:1299
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Intellectual Developmental Disorder, Autosomal Recessive 39
Abnormal repetitive mannerisms, Hyperactivity, Dental malocclusion, Aggressive behavior OMIM:615541
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Ankle flexion contracture, Micrognathia, Dysphagia, Abnormal repetitive mannerisms OMIM:617802
Bone Marrow Failure Syndrome 3
Hyperactivity, Micrognathia, Oral ulcer, Downturned corners of mouth, Hypodontia, Hernia, Microdo... OMIM:617052
Char Syndrome
Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v... ORPHA:46627
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... OMIM:204690
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Thin upper lip vermilion, Dorsocervical fat pad, Small for gestational age, Micrognathia, Hypopla... ORPHA:391408
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Aggressive b... OMIM:610253
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Raine Syndrome
Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p... OMIM:259775
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia, Dysphagia OMIM:614381
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over... ORPHA:420561
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Scarring alopecia of scalp, Short philtrum, Cleft palate OMIM:617337
Brachydactyly, Type B1
Joint contracture of the hand, Delayed eruption of permanent teeth, Camptodactyly OMIM:113000
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... ORPHA:50814
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Oligodontia, Hypodontia, Dysphagia ORPHA:447896
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Elevated circulating alkaline phosphatase concentration, Tongue fasciculations ORPHA:329475
Codas Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1458
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Lowry-Maclean Syndrome
Inguinal hernia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High... ORPHA:2409
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Bent Bone Dysplasia Syndrome 1
Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia OMIM:614592
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi... OMIM:608612
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Seckel Syndrome
Tooth agenesis, Abnormal dental enamel morphology, Cachexia, Micrognathia ORPHA:808
Oromandibular Dystonia
Abnormality of the temporomandibular joint, Abnormal mandible morphology, Dysphagia, Weight loss,... ORPHA:93958
Cherubism
Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod... OMIM:118400
Intestinal Dysmotility Syndrome
Failure to thrive, High palate, Broad philtrum, Weight loss OMIM:620045
Osteogenesis Imperfecta, Type X
Malar flattening, Inguinal hernia, Dentinogenesis imperfecta, Micrognathia OMIM:613848
Acrofacial Dysostosis, Catania Type
Carious teeth OMIM:101805
Autosomal Dominant Hypophosphatemic Rickets
Elevated circulating alkaline phosphatase concentration, Tooth abscess ORPHA:89937
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Flexion contracture, Long philtrum ORPHA:263463
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat... ORPHA:2712
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Cachexia, Abnormal palate morphology, Long philtrum ORPHA:1389
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Lipodystrophy, Increas... ORPHA:199276
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol... ORPHA:96263
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Micrognathia OMIM:616901
Hamamy Syndrome
Thin upper lip vermilion, Inguinal hernia, Micrognathia, Dental malocclusion, Wide mouth, High pa... OMIM:611174
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum ORPHA:3214
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia ORPHA:2050
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Abnormality of the dentition, Micrognathia, Aggressive behavior, Eruption failur... ORPHA:476126
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Elevated circulating alkaline phosphatase concentration, Increased circulating lac... OMIM:259700
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion OMIM:619692
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Enamel hypoplasia, Interface hepatitis OMIM:243150
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Scarf Syndrome
Umbilical hernia, Enamel hypoplasia, Inguinal hernia, Long philtrum OMIM:312830
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Micrognathia, Eruption fa... OMIM:619322
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth ORPHA:2728
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Lipodystrophy, Cellulitis, Advanced er... ORPHA:2348
Immunodeficiency 48
Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells OMIM:269840
Trichothiodystrophy 3, Photosensitive
Carious teeth, Natal tooth, Failure to thrive, Eclabion OMIM:616395
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Inguinal hernia, Abnormality of the dentition, Large for gestational age, Thick lowe... ORPHA:261652
Short Syndrome
Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Lipoatrophy, Small for gestational age... OMIM:269880
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... OMIM:214900
Trisomy 9P
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth ORPHA:236
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Cleft pala... ORPHA:2916
Osteogenesis Imperfecta, Type Viii
Inguinal hernia, Dentinogenesis imperfecta OMIM:610915
Momo Syndrome
Delayed eruption of teeth, Large for gestational age, Thick lower lip vermilion, Dental malocclus... ORPHA:2563
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Impulsivity, Micrognathia, Aggressive behavior, Dental malocclusion, Localized hypoplasia of dent... ORPHA:73223
Flynn-Aird Syndrome
Carious teeth, Cachexia ORPHA:2047
Pachyonychia Congenita 2
Oral leukoplakia, Natal tooth, Angular cheilitis OMIM:167210
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth OMIM:259710
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Failure to thrive, Delayed eruption of primary teeth OMIM:620099
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Chronic active hepatitis OMIM:240300
Kilquist Syndrome
Mandibular prognathia, Wide mouth, Hypoplasia of teeth OMIM:619080
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth OMIM:609638
Oculodentodigital Dysplasia
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,... OMIM:164200
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Small for gestational age, Velopharyngeal insufficiency, Non-mi... ORPHA:199302
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
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Micrognathia, Abn... ORPHA:3253
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Enamel hypoplasia ORPHA:94089
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia, Neuromuscular dysphagia ORPHA:466722
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Carious teeth, Limb joint contracture, Reduced subcutaneous adipose tissue, Hypodontia OMIM:612079
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Glycosylphosphatidylinositol Biosynthesis Defect 11
Inguinal hernia, Tented upper lip vermilion, Macroglossia, Elevated circulating alkaline phosphat... OMIM:616025
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Dental malocclusion, Abnormality of the dentition ORPHA:1858
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Microdontia, Truncal obesity, Enamel hypoplasia, Retrognathia OMIM:210720
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Abnormal dental enamel morphology, Obesity ORPHA:251004
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Oral mucosal blisters, Atrophic scars, Smooth tongue, Enamel hypoplasia, Failure to thrive ORPHA:79396
Christianson Syndrome
Mandibular prognathia, Cachexia, Inappropriate laughter, Dysphagia, Arthrogryposis multiplex cong... ORPHA:85278
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Micrognathia, Flexion ... ORPHA:1979
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Knobloch Syndrome 2
Enamel hypoplasia, Micrognathia OMIM:618458
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario... ORPHA:1798
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Supernumerary tooth, High palate, Persistence of primary teeth OMIM:619752
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Corneodermatoosseous Syndrome
Carious teeth, Abnormal dental enamel morphology, Gingivitis ORPHA:3194
Mucopolysaccharidosis Type 4
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W... ORPHA:582
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti... ORPHA:3220
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi... OMIM:619777
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters ORPHA:79403
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Oligodontia, Microdontia, Failure to thrive ORPHA:2315
Immunodeficiency 49
Natal tooth, Umbilical hernia, Short philtrum, Micrognathia OMIM:617237
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... ORPHA:96264
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ... OMIM:190350
Chronic Mucocutaneous Candidiasis
Cheilitis, Abnormal lip morphology, Hepatitis, Abnormal dental enamel morphology ORPHA:1334
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Hip contracture, Inguinal hernia, Aggressive behavior, Elbow flexion contracture, Knee flexion co... OMIM:616809
Blepharo-Cheilo-Odontic Syndrome
Carious teeth, Bilateral cleft lip and palate, Conical tooth ORPHA:1997
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Malar flattening, Retrognathia, Abnormal palate morphology ORPHA:1390
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Jaundice, Failure to thrive OMIM:612714
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Cleidocranial Dysplasia 1
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup... OMIM:119600
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology ORPHA:3353
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Enamel hypoplasia, Polyphagia, Obesity ORPHA:79444
Microcephalic Primordial Dwarfism, Montreal Type
Lipoatrophy, Micrognathia, Open bite, Carious teeth, Abnormal palate morphology, Shagreen patch ORPHA:2617
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... ORPHA:1452
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Teebi Hypertelorism Syndrome 1
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Long philtrum OMIM:145420
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Delayed eruption... ORPHA:819
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Barber-Say Syndrome
Delayed eruption of teeth, Failure to thrive, Wide mouth ORPHA:1231
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis ORPHA:172
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,... ORPHA:439822
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Micrognathia, Tooth malposition ORPHA:2484
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth ORPHA:457365
8P Inverted Duplication/Deletion Syndrome
Impulsivity, Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Contr... ORPHA:96092
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Irregular dentition, Hyperactivity, Tented upper lip vermilion, Small ... OMIM:619148
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion, Aggressive ... OMIM:616202
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Supernumerary tooth, Abnormality of the dentition ORPHA:1264
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Costello Syndrome
Failure to thrive in infancy, Abnormal dental enamel morphology, Abnormality of the dentition, Th... ORPHA:3071
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip OMIM:616788
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Hypoplasia of teeth OMIM:234050
Arthrogryposis And Ectodermal Dysplasia
Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Atypical scarr... OMIM:601701
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Hypophosphatemic Rickets, X-Linked Dominant
Elevated circulating alkaline phosphatase concentration, Enamel hypomineralization OMIM:307800
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... OMIM:615631
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Inguinal hernia, Micrognathia, Abnormality of the dentition, Elbow flexion... OMIM:151050
Multiple Pterygium-Malignant Hyperthermia Syndrome
Inguinal hernia, Exaggerated cupid's bow, Camptodactyly of finger, Narrow mouth, Abnormal lactate... ORPHA:2215
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth ORPHA:950
Orofaciodigital Syndrome I
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu... OMIM:311200
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Emanuel Syndrome
Delayed eruption of teeth, Broad jaw, Inguinal hernia, Multiple joint contractures, Dental crowdi... ORPHA:96170
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Hyperactivity, Gingival overgrowth, Narrow palate, Conical incisor, Ol... OMIM:235510
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hypocalcification of dental enamel ORPHA:169090
Usher Syndrome
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology ORPHA:886
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ... ORPHA:2780
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Cleft palate, Gingivitis, Cellulitis ORPHA:2314
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024