Gene Summary

Name:
B cell leukemia/lymphoma 11B
Synonyms:
9130430L19Rik,  COUP-TF interacting protein 2,  B630002E05Rik,  CTIP2,  Rit1

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
increased vertical activity Bcl11btm1.1(KOMP)Vlcg HET   Early adult 5.28×10-05
increased bone mineral content Bcl11btm1.1(KOMP)Vlcg HET Early adult 2.38×10-05
preweaning lethality, complete penetrance Bcl11btm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal bone structure Bcl11btm1.1(KOMP)Vlcg HET Early adult 7.06×10-06
abnormal facial morphology Bcl11btm1.1(KOMP)Vlcg HOM E18.5 0.00
increased fasting circulating glucose level Bcl11btm1.1(KOMP)Vlcg HET   Early adult 7.69×10-05
abnormal eyelid fusion Bcl11btm1.1(KOMP)Vlcg HOM E18.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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 Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Gross Morphology Embryo E18.5

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Sleep Wake

Wake state (bmp file)

1 Images

MicroCT E18.5

Embryo reconstruction

6 Images

X-ray

XRay Images Forepaw

9 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

Human diseases caused by Bcl11b 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.

The table below shows human diseases associated to Bcl11b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 49
Umbilical hernia, Micrognathia, Short philtrum, Natal tooth OMIM:617237
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Short palpebral fissure, Epicanthus, Thin eyebrow, Abnormally low T cell receptor excision circle... OMIM:618092

The table below shows human diseases predicted to be associated to Bcl11b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Dentin Dysplasia, Type I
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... OMIM:125400
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite OMIM:617297
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta OMIM:104530
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... OMIM:125500
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel OMIM:613211
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Otodental Dysplasia
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... OMIM:166750
Incisors, Rotation Of Upper Central
Rotated maxillary central incisors OMIM:147350
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth OMIM:125420
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... OMIM:301200
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:104510
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... OMIM:204650
Taurodontism
Taurodontia OMIM:272700
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Trichodentoosseous Syndrome
Microdontia, Taurodontia, Widely spaced teeth OMIM:190320
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... ORPHA:2972
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... OMIM:616221
Oligodontia
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Death in childhood, Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Amelogenesis Imperfecta, Type If
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta OMIM:616270
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Dentinogenesis Imperfecta
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Selective tooth agenesi... ORPHA:49042
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors OMIM:183300
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Enamel hypoplasia, Hypodontia, Oral mucosal blisters, Carious teeth OMIM:226650
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Abnormal mandible morphology, Arthrogryposis multiplex congenita, Natal tooth OMIM:217150
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth, Scarring alopecia of scalp OMIM:619787
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... OMIM:204700
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno... ORPHA:477781
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth ORPHA:2026
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Microdon... ORPHA:3352
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Delayed eruption of teeth, Abnormality of dental morphology, Gingival fibromatosis, ... ORPHA:2025
Trichodental Dysplasia
Conical tooth, Hypodontia, Odontodysplasia OMIM:601453
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Eruption failure, Delayed eruption of primary teeth, Multiple non-er... OMIM:273050
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ... ORPHA:2228
Cleft Palate, Isolated
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Immunodeficiency 33
Conical tooth, Hypodontia, Delayed eruption of teeth OMIM:300636
Lowry-Maclean Syndrome
Cleft palate, Delayed eruption of teeth OMIM:600252
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp ORPHA:79402
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Enamel hypoplasia, Atrophic scars OMIM:226700
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... ORPHA:199306
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Retrognathia, Enamel hypoplasia, High palate OMIM:617915
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Malar flattening, Thin vermilion border, Abnormal dental enamel morphology ORPHA:139474
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel OMIM:203550
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... ORPHA:83451
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Abnormality of the dentition, Maxillary lateral incisor microdontia,... ORPHA:1193
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormality of the dentition ORPHA:1811
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon... OMIM:313500
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Short philtrum, Tooth agenesis, Abnormal dental... ORPHA:2325
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Pyle Disease
Mandibular prognathia, Hypoplastic frontal sinuses, Delayed eruption of teeth, Absent paranasal s... OMIM:265900
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Heimler Syndrome 2
Amelogenesis imperfecta, Dental crowding OMIM:616617
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Oligodontia, Joint contracture of the 5th finger, Discolored lateral inci... OMIM:601668
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Natal tooth ORPHA:99811
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Abnormality of dental morphology, Hypoplasia of teeth ORPHA:248
Hemifacial Atrophy, Progressive
Dental malocclusion, Short mandibular rami, Tongue atrophy, Delayed eruption of teeth OMIM:141300
Vascular Malformation, Primary Intraosseous
Ectopic tooth eruption, Gingival bleeding, Umbilical hernia OMIM:606893
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... ORPHA:1028
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Reduced natural kil... OMIM:300400
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Jalili Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:1873
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth ORPHA:79405
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Camptodactyly, Inguinal hernia, Cleft lip, Cleft palate... OMIM:618761
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth OMIM:616029
Tooth Agenesis, Selective, 3
Microdontia, Oligodontia, Oligodontia of primary teeth, Agenesis of permanent molar OMIM:604625
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Reduced antigen-specific ... OMIM:617241
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Enamel hypoplasia, Scarring alopecia of scalp, Limb joint contracture, Atypic... ORPHA:251393
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Shagreen patch, Delayed eruption of teeth ORPHA:1816
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Peg-shaped maxillary lateral incisors OMIM:610706
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth ORPHA:79406
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Thick lower lip vermilion, Microdontia of primary teeth, U-Shaped upper lip ve... OMIM:234250
Anonychia With Flexural Pigmentation
Carious teeth ORPHA:69125
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Enamel hypoplasia, Carious teeth OMIM:614564
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted lower lip vermilion, Microdontia, Everted upper lip vermilion, Delayed eruption of teeth ORPHA:181
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, High palate, Delayed eruption of teeth, Micrognathia, Narrow mouth, Ma... OMIM:613849
Filippi Syndrome
Hypodontia, Microdontia, Abnormality of dental morphology, Short philtrum, Thin vermilion border,... OMIM:272440
Ramon Syndrome
Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palate, Delayed eruption of teeth ORPHA:3019
Ameloonychohypohidrotic Syndrome
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... OMIM:104570
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Wide mouth, Macroglossia, Diastema, Everted l... OMIM:618729
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Enamel hypoplasia, Mandibular prognathia, High palate, Pierre-Robin sequence, Hip contracture, Mi... OMIM:618363
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Enamel hypoplasia, Increased connective tissue, Scarring alopecia of scalp OMIM:226670
Intellectual Disability, Birk-Barel Type
Incisor macrodontia, Congenital finger flexion contractures, Foot joint contracture, Micrognathia... ORPHA:166108
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus OMIM:146750
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:166272
Cranioectodermal Dysplasia
Microdontia, Hypodontia, Taurodontia, Everted lower lip vermilion, Abnormality of the dentition, ... ORPHA:1515
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters ORPHA:79411
Congenital Panfollicular Nevus
Hyperkeratosis, Pruritus ORPHA:139414
Clark-Baraitser syndrome
Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue furrow, Maxi... OMIM:300602
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Carious teeth, Dentinogenesis imperfecta OMIM:604922
Intellectual Disability And Myopathy Syndrome
Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Thin upper lip vermilion, ... OMIM:619719
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Dental Anomalies And Short Stature
Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Hypoplasia of the maxilla, ... OMIM:601216
Rubinstein-Taybi Syndrome 2
Retrognathia, Dental malocclusion, Talon cusp, Narrow palate, High palate, Micrognathia, Carious ... OMIM:613684
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Acrofacial Dysostosis, Weyers Type
Conical tooth, Hypodontia, Advanced eruption of teeth, Abnormal oral frenulum morphology, Solitar... ORPHA:952
48,Xyyy Syndrome
Enamel hypoplasia, High palate, Long philtrum, Thick lower lip vermilion, Irregularly spaced teeth ORPHA:99329
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Intellectual Developmental Disorder, Autosomal Dominant 21
Incisor macrodontia, Long philtrum, Narrow mouth, Thin vermilion border, Cleft palate OMIM:615502
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Nance-Horan Syndrome
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry molar, Diastema OMIM:302350
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta OMIM:301014
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Follicular hyperkeratosis, Perioral hyperkeratosis OMIM:613000
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Atkin-Flaitz Syndrome
Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue furrow, Maxi... OMIM:300431
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Ectodermal Dysplasia-Syndactyly Syndrome 1
Conical tooth, Enamel hypoplasia, Widely spaced teeth OMIM:613573
Growth Hormone Insensitivity Syndrome
Everted lower lip vermilion, Delayed eruption of teeth ORPHA:181393
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Enamel hypoplasia, Scarring alopecia of scalp OMIM:612843
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Amelogenesis imperfecta OMIM:245660
Odontotrichoungual-Digital-Palmar Syndrome
Dental malocclusion, Mandibular prognathia, Natal tooth, Thick vermilion border OMIM:601957
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus ORPHA:735
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Macroglossia, Delayed eruption of teeth OMIM:614450
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture OMIM:270200
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Delayed eruption of permanent teeth, Wide mouth, Thick vermilion border OMIM:618506
Cardiospondylocarpofacial Syndrome
High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition ORPHA:3238
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Abnormality of the philtrum, High palate, Delayed eruption of teeth, Mic... ORPHA:2863
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Hypoplasia of the zygomatic bone, Micrognathia, Carious teeth, Supernumerary tooth ORPHA:3145
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Seckel Syndrome 5
Retrognathia, Enamel hypoplasia, High palate, Selective tooth agenesis, Micrognathia, Hypodontia,... OMIM:613823
Eem Syndrome
Selective tooth agenesis, Widely spaced teeth, Microdontia, Abnormality of dental morphology, Car... ORPHA:1897
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Taurodontia, Short philtrum, High, narrow palate, Macrodontia ORPHA:3214
Teebi Hypertelorism Syndrome 2
High palate, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion, Thin upper lip ... OMIM:619736
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Pulp calcification, Taurodontia OMIM:211900
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Deep philtrum, Microdontia, Diastema, Cleft palate OMIM:605282
Cenani-Lenz Syndactyly Syndrome
Enamel hypoplasia, Micrognathia, Hypodontia, Malar flattening, Premature loss of permanent teeth OMIM:212780
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Hypoplasia of teeth OMIM:613312
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Open mouth, Macrodontia of permanent maxillary central incisor, Thick vermilion border OMIM:620114
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Abnormal palate morphology, Abnormality of the dentition ORPHA:3270
Momo Syndrome
Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Thick lower lip vermi... OMIM:157980
Mulibrey Nanism
Enamel hypoplasia, Dental malocclusion, Hypoplastic frontal sinuses, Hypodontia, Absent frontal s... OMIM:253250
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617574
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Delayed eruption of permanent teeth, Am... OMIM:204690
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hypodontia, Oligodontia, Scarring alopecia of scalp, Abnormal dental enamel morphology ORPHA:59303
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Thick lower lip vermilion, Taurodontia, Inguinal hernia, Ca... ORPHA:10
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Abnormality of the dentition ORPHA:2501
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Dental crowding OMIM:618825
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Delayed e... OMIM:257850
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Enamel hypoplasia, Microdontia, Oligodontia, Scarring alopeci... OMIM:618727
Dermatoleukodystrophy
Hyperkeratosis ORPHA:1659
Snijders Blok-Campeau Syndrome
Enamel hypoplasia, High palate, Widely spaced teeth, Taurodontia, Inguinal hernia, Umbilical hernia OMIM:618205
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypodontia, Oligodontia, Natal tooth OMIM:601345
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Naegeli-Franceschetti-Jadassohn Syndrome
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Abnormality of dental morphology, Sup... ORPHA:69087
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Laron Syndrome
Micrognathia, Tooth agenesis, Microdontia, Delayed eruption of teeth ORPHA:633
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Acrofacial Dysostosis, Catania Type
Carious teeth OMIM:101805
Recessive Dystrophic Epidermolysis Bullosa Inversa
Carious teeth, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters ORPHA:79409
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta, Abnormality of the dentition OMIM:610968
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, High palate, Thick lower lip vermilion, Micrognathia, Hypodontia, Short philtrum, E... OMIM:618342
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly OMIM:616622
Ulerythema Ophryogenesis
Hyperkeratotic papule, Sparse lateral eyebrow, Miscarriage, Contact dermatitis, Follicular hyperk... ORPHA:3406
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, High, narrow palate OMIM:619692
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Microdontia, Narrow mouth, Delayed eruption of permanent teeth, Open mouth OMIM:619356
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Craniometaphyseal Dysplasia, Autosomal Recessive
Broad alveolar ridges, Facial hyperostosis, Mandibular prognathia, Delayed eruption of permanent ... OMIM:218400
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal palate morphology, Abnormal dental enamel morphology ORPHA:3236
Braddock-Carey Syndrome 1
Enamel hypoplasia, Pierre-Robin sequence, Camptodactyly, Everted lower lip vermilion, U-Shaped up... OMIM:619980
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Atypical scarring of skin OMIM:229200
Frank-Ter Haar Syndrome
Camptodactyly of finger, Mandibular prognathia, Wide mouth, Delayed eruption of teeth, Short phil... ORPHA:137834
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Wide mouth, Widely spaced teeth, Everted lowe... OMIM:618067
Jalili Syndrome
Enamel agenesis, Carious teeth, Yellow-brown discoloration of the teeth OMIM:217080
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Supernumerary tooth, Abnormality of the dentition ORPHA:1264
Cockayne Syndrome Type 2
Enamel hypoplasia, Mandibular prognathia, Flexion contracture, Delayed eruption of primary teeth,... ORPHA:90322
Qazi-Markouizos Syndrome
Open mouth, High, narrow palate, Broad philtrum, Hypoplasia of teeth ORPHA:3010
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Aredyld Syndrome
Mandibular prognathia, Advanced eruption of teeth, Craniofacial hyperostosis, Narrow mouth, Smoot... ORPHA:1133
Cole-Carpenter Syndrome 1
Micrognathia, Microdontia, Dentinogenesis imperfecta OMIM:112240
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth, Atypical scarri... ORPHA:79410
Tetrasomy 12P
Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion,... ORPHA:884
Pycnodysostosis
Narrow palate, Delayed eruption of primary teeth, Micrognathia, Hypodontia, Absent frontal sinuse... OMIM:265800
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Tooth malposition, Micrognathia, Microdontia, Hypodontia, Oligodontia, Hypoplasia of ... ORPHA:363417
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth ORPHA:375
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Arthrogryposis multiplex congenita OMIM:226730
Osteoglosphonic Dysplasia
Inguinal hernia, Micrognathia, Multiple unerupted teeth, Tooth agenesis ORPHA:2645
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Oculoskeletodental Syndrome
Retrognathia, Enamel hypoplasia, Microdontia, Oligodontia, Abnormality of the dentition ORPHA:557003
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening OMIM:614727
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Dental malocclusion, Mandibular prognathia, Abnormality of the dentition ORPHA:1858
Hypophosphatasia, Childhood
Carious teeth, Premature loss of primary teeth OMIM:241510
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Cleft palate, Short philtrum, Scarring alopecia of scalp, Natal tooth OMIM:617337
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Flexion contracture, Hypoplasia of teeth, Accessory oral frenulum ORPHA:88630
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth OMIM:616108
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Crowded maxillary incisors, Narrow palate, Micrognathia, Inguinal hernia, Abnormal palate morphol... ORPHA:2063
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Taurodontia, Abnormality of the dentition, Abnormal dental enamel morpho... ORPHA:3220
Oslam Syndrome
Carious teeth ORPHA:2760
Dysosteosclerosis
Craniofacial hyperostosis, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1782
Cherubism
Dental malocclusion, Narrow palate, Jaw swelling, Oligodontia, Macular scar, Alveolar ridge overg... OMIM:118400
Usher Syndrome Type 2
Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:231178
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Persistence of primary teeth OMIM:147060
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Micrognathia, Everted lower lip vermilion, Hypoplasia of the m... OMIM:616367
Craniosynostosis 3
Dental malocclusion OMIM:615314
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth OMIM:619797
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... OMIM:615513
Momo Syndrome
Thick upper lip vermilion, Dental malocclusion, High palate, Long philtrum, Delayed eruption of t... ORPHA:2563
Rapp-Hodgkin Syndrome
Conical tooth, Enamel hypoplasia, Cleft upper lip, Microdontia, Hypodontia, Bifid uvula, Taurodon... OMIM:129400
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Hypophosphatasia, Adult
Carious teeth, Premature loss of primary teeth, Chondrocalcinosis, Premature loss of permanent teeth OMIM:146300
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Long philtrum, Delayed eruption of teeth OMIM:184260
4H Leukodystrophy
Hypodontia, Abnormality of the dentition, Delayed eruption of teeth ORPHA:289494
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Recurrent skin infections ORPHA:79503
Bent Bone Dysplasia Syndrome 1
Micrognathia, Malar flattening, Gingival overgrowth, Natal tooth OMIM:614592
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Cranioectodermal Dysplasia 4
Thin vermilion border, Taurodontia, Smooth philtrum OMIM:614378
Pachyonychia Congenita 2
Oral leukoplakia, Angular cheilitis, Natal tooth OMIM:167210
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Advanced eruption of teeth, Mandibular prognathia, High palate OMIM:262190
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Carious teeth, Bilateral cleft lip and palate ORPHA:1997
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Hall-Riggs Syndrome
Wide mouth, Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morpho... ORPHA:2107
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Enamel hypoplasia, High palate, Ankyloglossia, Thin upper lip vermilion, Malar flattening, Bilate... OMIM:618874
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... ORPHA:1031
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... OMIM:603554
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Osteogenesis Imperfecta, Type Iii
Micrognathia, Dentinogenesis imperfecta OMIM:259420
Lowry-Maclean Syndrome
Retrognathia, Talon cusp, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxi... ORPHA:2409
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Enamel hypoplasia, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Oral muco... OMIM:226600
Char Syndrome
No permanent dentition, Short philtrum, Everted lower lip vermilion, Persistence of primary teeth... ORPHA:46627
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Retrognathia, Dentinogenesis imperfecta, Periodontitis, Delayed eruption of permanent teeth, Prem... OMIM:619269
Coffin-Siris Syndrome 3
Central diaphragmatic hernia, High palate, Long philtrum, Wide mouth, Macroglossia, Inguinal hern... OMIM:614608
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Malan Syndrome
Retrognathia, Mandibular prognathia, Advanced eruption of teeth, Hyperplasia of the premaxilla, E... OMIM:614753
Orofacial Cleft 15
Palate fistula, Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip OMIM:616788
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Developmental And Epileptic Encephalopathy 41
Flexion contracture, Delayed eruption of teeth OMIM:617105
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Decreased circulating antibody level, Death in infancy, Lymphopenia, Im... OMIM:243150
Ohdo Syndrome
Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Smooth philtrum, Thin vermilion b... OMIM:249620
Craniometadiaphyseal Dysplasia
Mandibular prognathia, High palate, Natal tooth, Absent paranasal sinuses, Microdontia, Dental cr... OMIM:269300
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... OMIM:242700
Brachydactyly, Type B1
Delayed eruption of permanent teeth, Camptodactyly, Joint contracture of the hand OMIM:113000
Maxillonasal Dysplasia
Mandibular prognathia, Microdontia, Short nose, Hypoplasia of the maxilla, Tooth agenesis, Cleft ... ORPHA:1248
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Incisor macrodontia, High palate, Thin upper lip vermilion, Tented upper lip vermilion, Abnormali... ORPHA:438216
Craniolenticulosutural Dysplasia
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Microdontia, Hypoplasia of the... ORPHA:50814
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Dental malocclusion, Mandibular prognathia, High palate, Abnormality of ... ORPHA:1327
Classic Mycosis Fungoides
Abnormal eyelid morphology, Pruritus, Skin rash, Eczema, Edema, Lymphadenopathy, Hyperkeratosis, ... ORPHA:2584
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Agenesis of molar, Microdontia, Supernumerary tooth, Diastema OMIM:619718
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Cole-Carpenter Syndrome 2
Dentinogenesis imperfecta, High palate, Microretrognathia OMIM:616294
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Taurodontia, Inguinal hernia, Carious teeth, Cl... ORPHA:96263
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Pierre-Robin sequence, Hypodontia, Oligodontia, Dental crowding, Cleft palate,... OMIM:619184
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Foll... OMIM:613736
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth OMIM:609638
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Long philtrum, Delayed eruption of teeth, Camptodactyly, Macroglossia, Dental crowdi... OMIM:616354
Tooth Agenesis, Selective, 4
Tooth agenesis, Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality o... OMIM:150400
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... OMIM:602450
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Dental malocclusion, High palate, Joint contracture of the hand, Delayed... OMIM:612350
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, High palate, Prominent frontal sinuses, Micrognathia, Oligodontia, Dental crow... OMIM:170390
Acrocraniofacial Dysostosis
Micrognathia, Natal tooth, Short philtrum, Cleft palate OMIM:201050
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Dental malocclusion, Flexion contracture, Wide mouth, Widely spaced teeth, Mic... OMIM:619293
Coffin-Siris Syndrome 2
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Thick lower lip vermilion, Sho... OMIM:614607
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Death in childhood, Splenomegaly OMIM:619164
Immunodeficiency 9
Amelogenesis imperfecta, Recurrent aphthous stomatitis, Stomatitis OMIM:612782
Flynn-Aird Syndrome
Carious teeth OMIM:136300
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Micrognathia, Short philtrum, Hypoplasia of t... OMIM:216550
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:312863
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Malar flattening, Mandibular prognathia, High palate, Abnormal dental enamel morphology ORPHA:2180
Pachyonychia Congenita
Angular cheilitis, Natal tooth, Oral leukoplakia, Advanced eruption of teeth ORPHA:2309
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Hiatus hernia, Persistence of primary teeth, Umbilical hernia OMIM:619769
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Neutropenia, Eosinophilia OMIM:257100
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta OMIM:166200
Chst3-Related Skeletal Dysplasia
Flexion contracture, Long philtrum, Delayed eruption of teeth ORPHA:263463
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Inguinal hernia, Hypocalcification of dental enamel, Umbilical ... ORPHA:3134
Temple-Baraitser Syndrome
High palate, Everted upper lip vermilion, Long philtrum, Delayed eruption of teeth, Wide mouth, E... ORPHA:420561
X-Linked Intellectual Disability Due To Gria3 Mutations
Short upper lip, Mandibular prognathia, Narrow palate, Macrodontia of permanent maxillary central... ORPHA:364028
Aarskog-Scott Syndrome
Camptodactyly of finger, Cleft upper lip, Long philtrum, Delayed eruption of teeth, Everted lower... ORPHA:915
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Carious teeth, Hypodontia, Reduced subcutaneous adipose tissue, Limb joint contracture OMIM:612079
Trichodermodysplasia-Dental Alterations Syndrome
Abnormality of dental morphology, Tooth agenesis, Supernumerary tooth, Delayed eruption of teeth ORPHA:3353
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Taurodontia, Carious teeth, Cleft palate, Open ... ORPHA:96264
Pycnodysostosis
Enamel hypoplasia, Dental malocclusion, Obtuse angle of mandible, High palate, Delayed eruption o... ORPHA:763
Trisomy 9P
Non-midline cleft lip, Downturned corners of mouth, Impacted tooth, Dental crowding ORPHA:236
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Micrognathia, Natal tooth OMIM:616901
Oculofaciocardiodental Syndrome
Tooth malposition, Long philtrum, Delayed eruption of teeth, Oligodontia, Flexion contracture of ... ORPHA:2712
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... OMIM:611926
Codas Syndrome
Abnormality of dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1458
Cole-Carpenter Syndrome
Micrognathia, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2050
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Enamel hypoplasia, Delayed eruption of teeth OMIM:277440
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Malar flattening, Abnormal palate morphology, Retrognathia ORPHA:1390
Seckel Syndrome 1
Enamel hypoplasia, Dental malocclusion, High palate, Selective tooth agenesis, Micrognathia, Elbo... OMIM:210600
Smith-Magenis Syndrome
Cleft upper lip, Mandibular prognathia, Delayed eruption of primary teeth, Micrognathia, Taurodon... ORPHA:819
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular prognathia, Persistence of primary teeth, Mandibular osteomyelitis OMIM:259710
Cerebrooculofacioskeletal Syndrome 1
Knee flexion contracture, Flexion contracture, Long philtrum, Joint contracture of the hand, Dela... OMIM:214150
Olmsted Syndrome, X-Linked
Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Subungual hyperkeratosis, Palmoplanta... OMIM:300918
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Split-Hand/Foot Malformation 3
High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate OMIM:246560
Immunodeficiency 104
T lymphocytopenia, Eczema, Chronic mucocutaneous candidiasis, Lymphadenopathy, Splenomegaly OMIM:608971
Three M Syndrome 2
Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Malar flattening, Thi... OMIM:612921
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Isolated Cleft Lip
Supernumerary maxillary incisor, Non-midline cleft lip, Bilateral cleft lip, Hypodontia, Velophar... ORPHA:199302
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Narrow mouth, Narrow palate, Thick lower lip vermilion ORPHA:457365
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Long philtrum, Umbilical hernia, Thin vermilion border OMIM:614856
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir... OMIM:618982
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Hyperkeratosis, Pruritus OMIM:617571
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor OMIM:616202
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypodontia, Oligodontia, Natal tooth, Delayed eruption of teeth OMIM:614381
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla, Elbow flexion contracture, Knee flexion contracture OMIM:259610
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Neonatal death, Hepatosplenomegaly OMIM:273680
Specific Granule Deficiency 2
Conical tooth, Amelogenesis imperfecta, Tooth malposition OMIM:617475
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss of teeth OMIM:156510
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Absent eyelashes, Cobblestone-like hyperkeratosis, Palmoplantar hyperkeratosis, P... OMIM:602540
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Hernia, Micrognathia, Hypodontia, Microdontia, Amelogenesis imperfecta OMIM:617052
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Persistence of primary teeth, High palate, Supernumerary tooth OMIM:619752
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita OMIM:601809
Marbach-Rustad Progeroid Syndrome
Eruption failure, Delayed eruption of primary teeth, Hypodontia, Micrognathia, Reduced subcutaneo... OMIM:619322
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hypodontia, Enamel hypoplasia, Oligodontia OMIM:607626
Temtamy Syndrome
Micrognathia, Dental crowding, Long philtrum, Hypoplasia of teeth OMIM:218340
Autosomal Recessive Spastic Paraplegia Type 77
Retrognathia, Macrodontia of permanent maxillary central incisor ORPHA:466722
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth OMIM:264700
Orofaciodigital Syndrome Type 2
Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ... ORPHA:2751
Familial Multiple Lipomatosis
Lipodystrophy, Odontogenic keratocysts of the jaw, Increased adipose tissue, Premature eruption o... ORPHA:199276
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Carious teeth, Camptodactyly of finger, Joint contracture of the 5th finger ORPHA:1883
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617526
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microdontia, Hypoplasia of teeth, Cleft palate, Widely spaced teeth ORPHA:2728
Tremor-Ataxia-Central Hypomyelination Syndrome
Hypodontia, Oligodontia, Delayed eruption of teeth ORPHA:447896
Ataxia-Telangiectasia
Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG2 leve... OMIM:208900