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
abnormal bone structure Bcl11btm1.1(KOMP)Vlcg HET Early adult 9.51×10-06
abnormal eyelid fusion Bcl11btm1.1(KOMP)Vlcg HOM E18.5 0.00
increased bone mineral content Bcl11btm1.1(KOMP)Vlcg HET Early adult 5.50×10-05
increased vertical activity Bcl11btm1.1(KOMP)Vlcg HET   Early adult 5.33×10-05
preweaning lethality, complete penetrance Bcl11btm1.1(KOMP)Vlcg HOM   Early adult 0.00
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

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 1.31% (6 of 457)
dorsal root ganglion 1.92% (1 of 52)
ear 0.22% (1 of 445)
embryo 0.44% (2 of 457)
eye 0.22% (1 of 461)
footplate 0.22% (1 of 462)
forebrain 0.22% (1 of 452)
forelimb 0.22% (1 of 459)
fronto-nasal process 1.72% (1 of 58)
handplate 0.21% (1 of 468)
head 1.09% (5 of 460)
heart 0.22% (1 of 462)
hindbrain 0.87% (4 of 459)
hindlimb 0.22% (1 of 452)
liver 0.22% (1 of 449)
lung 0.22% (1 of 451)
mandibular process 0.22% (1 of 459)
maxillary process 0.22% (1 of 452)
midbrain 0.22% (1 of 464)
nose 1.45% (1 of 69)
oral cavity 0.22% (1 of 465)
skin 0.22% (1 of 454)
spinal cord 1.64% (1 of 61)
tail 0.22% (1 of 460)
tail somite group 0.22% (1 of 455)

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 Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Gross Morphology Embryo E18.5

Images

8 Images

MicroCT E18.5

Embryo reconstruction

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Sleep Wake

Wake state (bmp file)

1 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
Micrognathia, Short philtrum, Natal tooth, Umbilical hernia OMIM:617237
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Narrow mouth, Hypodontia, Oligodontia, Long philtrum, Microdontia, Thin upper lip vermilion 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
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Incisors, Rotation Of Upper Central
Rotated maxillary central incisors OMIM:147350
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Taurodontism
Taurodontia OMIM:272700
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Microdontia OMIM:190320
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... ORPHA:2972
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Death in childhood, Lymphopenia OMIM:200900
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... ORPHA:49042
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Oral mucosal blisters, Carious teeth ORPHA:79406
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Carious teeth, Enamel hypoplasia OMIM:226650
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Epidermolysis Bullosa, Junctional 4, Intermediate
Scarring alopecia of scalp, Dental enamel pits, Carious teeth OMIM:619787
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Oral mucosal blisters, Atrophic scars, Carious teeth ORPHA:79405
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Dentinogenesis imperfecta, 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
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding OMIM:600907
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Gingival fibromatosis ORPHA:2026
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Hypodontia OMIM:616029
Trichodental Dysplasia
Odontodysplasia, Conical tooth, Hypodontia OMIM:601453
Tricho-Dento-Osseous Syndrome
Taurodontia, Periapical tooth abscess, Microdontia, Widely spaced teeth, Enamel hypomineralizatio... ORPHA:3352
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva... ORPHA:2025
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
17Q11.2 Microduplication Syndrome
Thin vermilion border, Enamel hypoplasia, Abnormal dental enamel morphology, Malar flattening ORPHA:139474
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... OMIM:228560
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting... OMIM:273050
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... ORPHA:2228
Immunodeficiency 33
Delayed eruption of teeth, Conical tooth, Hypodontia OMIM:300636
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
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, Scarring alopecia of scalp, Oral mucosal blisters, Atrophic scars ORPHA:79402
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hypodontia ORPHA:63442
Epidermolysis Bullosa, Junctional 1B, Severe
Enamel hypoplasia, Atrophic scars, Carious teeth OMIM:226700
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Anodontia OMIM:275450
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Thick vermilion border, Carious teeth ORPHA:363523
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Pyle Disease
Delayed eruption of teeth, Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Abs... OMIM:265900
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia OMIM:615905
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel OMIM:203550
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Dental malocclusion, Malar flattening OMIM:616108
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature loss of primary teeth, Premature eruption of permanent teeth ORPHA:1811
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Atkin-Flaitz Syndrome
Thick vermilion border, Abnormality of the dentition, Maxillary lateral incisor microdontia, Ever... ORPHA:1193
Tooth Agenesis, Selective, X-Linked, 1
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... OMIM:313500
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Abnormal dental... ORPHA:2325
Heimler Syndrome 2
Dental crowding, Amelogenesis imperfecta OMIM:616617
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormality of dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Oligodontia, Joint contracture of the 5th finger, Conical mandibular inci... OMIM:601668
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Natal tooth ORPHA:99811
Hemifacial Atrophy, Progressive
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Coffin-Siris Syndrome 10
Wide mouth, Persistence of primary teeth OMIM:618506
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Carious teeth OMIM:161000
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... ORPHA:1028
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia of the thymus, Decre... OMIM:300400
Pili Torti
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:2889
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Catifa Syndrome
Tooth malposition, Cleft palate, Inguinal hernia, Long philtrum, Delayed eruption of teeth, Campt... OMIM:618761
Jalili Syndrome
Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color ORPHA:1873
Tooth Agenesis, Selective, 3
Oligodontia, Oligodontia of primary teeth, Microdontia, Agenesis of permanent molar OMIM:604625
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Mandibular prognathia, Enamel hypoplasia, Malar flattening OMIM:600991
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Shagreen patch, Delayed eruption of teeth, Hypodontia ORPHA:1816
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth OMIM:613849
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... OMIM:617241
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Dental enamel pits, Limb joint contracture, Atypical scarring of skin, Scarrin... ORPHA:251393
Hall-Riggs Mental Retardation Syndrome
U-Shaped upper lip vermilion, Hypoplasia of the primary teeth, Microdontia of primary teeth, Enam... OMIM:234250
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Anonychia With Flexural Pigmentation
Carious teeth ORPHA:69125
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Micrognathia, Microdontia, Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors OMIM:610706
Pseudohypoaldosteronism Type 2
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:757
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion ORPHA:181
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Enamel hypoplasia ORPHA:2643
Liang-Wang Syndrome
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... OMIM:618729
Filippi Syndrome
Hypodontia, Thin vermilion border, Short philtrum, Microdontia, Serrated incisors, Abnormality of... OMIM:272440
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup... OMIM:104570
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Ramon Syndrome
Delayed eruption of teeth, Narrow palate, Gingival fibromatosis, Abnormal dental enamel morphology ORPHA:3019
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec... ORPHA:1946
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Enamel hypoplasia, Scarring alopecia of scalp, Increased connective tissue, Carious teeth OMIM:226670
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus OMIM:146750
Dental Anomalies And Short Stature
Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... OMIM:601216
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Carious teeth OMIM:604922
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:166272
Cranioectodermal Dysplasia
Taurodontia, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Microdontia, ... ORPHA:1515
Intellectual Disability, Birk-Barel Type
High, narrow palate, Micrognathia, Short philtrum, Congenital finger flexion contractures, Broad ... ORPHA:166108
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300602
48,Xyyy Syndrome
High palate, Irregularly spaced teeth, Long philtrum, Enamel hypoplasia, Thick lower lip vermilion ORPHA:99329
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Micrognathia OMIM:251190
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia OMIM:615502
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Incisor macrodontia, Widely-spaced maxillary central incisors, Thin upper li... OMIM:619719
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Amelogenesis imperfecta OMIM:245660
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Acrofacial Dysostosis, Weyers Type
Hypodontia, Abnormality of the dentition, Advanced eruption of teeth, Conical tooth, Solitary med... ORPHA:952
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Nance-Horan Syndrome
Mulberry molar, Supernumerary maxillary incisor, Diastema, Screwdriver-shaped incisors OMIM:302350
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300431
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Widely spaced teeth, Conical tooth OMIM:613573
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Everted lower lip vermilion ORPHA:181393
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Scarring alopecia of scalp, Carious teeth OMIM:612843
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Atrophic scars, Carious teeth ORPHA:79411
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture OMIM:270200
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Omphalocele OMIM:614450
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Tooth agenesis, Micrognathia, Camptodactyly of finger, Delayed eruption of teeth, Br... ORPHA:2863
Odontotrichoungual-Digital-Palmar Syndrome
Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth OMIM:601957
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus ORPHA:735
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth ORPHA:3238
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Taurodontia, Pulp calcification OMIM:211900
Eem Syndrome
Microdontia, Carious teeth, Widely spaced teeth, Abnormality of dental morphology, Selective toot... ORPHA:1897
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617574
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth, Carious teeth ORPHA:3145
Corneodermatoosseous Syndrome
Hypomature dental enamel OMIM:122440
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Temtamy Preaxial Brachydactyly Syndrome
Cleft palate, Diastema, Microdontia, Deep philtrum, Talon cusp OMIM:605282
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Hip contracture, Tooth agenesis, Microretrognathia, Cleft palate, Inguinal hernia, M... OMIM:618363
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Taurodontia, High, narrow palate, Short philtrum, Macrodontia, Delayed eruption of teeth ORPHA:3214
Teebi Hypertelorism Syndrome 2
High palate, Cleft palate, Everted lower lip vermilion, Microdontia, Delayed eruption of teeth, T... OMIM:619736
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival overgrowth, Gingival hyperkeratosis, Hypodontia, Recurrent mandibular subluxations, Ever... OMIM:225410
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypoplasia of teeth, Carious teeth OMIM:613312
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... OMIM:619313
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Natal tooth OMIM:617337
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Wide mouth, Long philtrum, Delayed eruption of teeth, Dental crowding OMIM:618825
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormal palate morphology, Abnormality of the dentition, Carious teeth ORPHA:3270
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Mulibrey Nanism
Dental malocclusion, Hypodontia, Enamel hypoplasia, Hypoplastic frontal sinuses, Dental crowding,... OMIM:253250
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, Microdontia, En... OMIM:618727
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Long philtrum, Delayed eruption of teeth, Smooth p... OMIM:157980
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Oligodontia, Scarring alopecia of scalp, Hypodontia, Abnormal dental enamel morphology ORPHA:59303
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... OMIM:614669
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
48,Xxyy Syndrome
Taurodontia, Cleft palate, Open bite, Inguinal hernia, Delayed eruption of teeth, Carious teeth, ... ORPHA:10
Amelogenesis Imperfecta, Type Ig
Gingival overgrowth, Dagger-shaped pulp calcifications, Gingival fibromatosis, Delayed eruption o... OMIM:204690
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Oligodontia, Hypodontia, Natal tooth OMIM:601345
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Carious teeth, Incre... OMIM:613684
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central incisor, Thin vermi... OMIM:257850
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Flexion contracture of finger, Supernumerary tooth, Abnormality of the d... ORPHA:69087
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis OMIM:270220
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth ORPHA:2501
Dermatoleukodystrophy
Hyperkeratosis ORPHA:1659
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
Cole Disease
Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Death in childhood... OMIM:619924
Laron Syndrome
Micrognathia, Tooth agenesis, Delayed eruption of teeth, Microdontia ORPHA:633
Acrofacial Dysostosis, Catania Type
Carious teeth OMIM:101805
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Enamel hypoplasia, Oligodontia, Hypodontia OMIM:607626
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Dental crowding, Overjet, Persistence of primary teeth, Hypodontia, Everted lower li... OMIM:618342
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Mandibular prognathia OMIM:263540
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Osteogenesis Imperfecta, Type Xi
Abnormality of the dentition, Dentinogenesis imperfecta OMIM:610968
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Micrognathia, Microdontia, Open mouth, Delayed eruption of permanent teeth OMIM:619356
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, High, narrow palate OMIM:619692
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Hypodontia, Flexion contracture, Carious teeth OMIM:612079
Craniometaphyseal Dysplasia, Autosomal Recessive
Broad alveolar ridges, Mandibular prognathia, Delayed eruption of permanent teeth, Facial hyperos... OMIM:218400
Ulerythema Ophryogenesis
Miscarriage, Follicular hyperkeratosis, Contact dermatitis, Acne, Hyperkeratotic papule, Sparse l... ORPHA:3406
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Cleft palate, Everted lower lip vermilion, Camptodactyly, Enamel hy... OMIM:619980
Brittle Cornea Syndrome 1
Atypical scarring of skin, Dentinogenesis imperfecta OMIM:229200
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Immunodeficiency 9
Stomatitis, Amelogenesis imperfecta, Recurrent aphthous stomatitis OMIM:612782
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal palate morphology, Abnormal dental enamel morphology ORPHA:3236
Cockayne Syndrome Type 2
Anodontia, Widely spaced primary teeth, Scarring, Hypoplasia of the primary teeth, Flexion contra... ORPHA:90322
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Acrokeratosis Verruciformis
Hyperkeratosis OMIM:101900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Frank-Ter Haar Syndrome
Wide mouth, Gingival overgrowth, Premature loss of teeth, Inguinal hernia, Short philtrum, Campto... ORPHA:137834
Qazi-Markouizos Syndrome
Hypoplasia of teeth, Broad philtrum, High, narrow palate, Open mouth ORPHA:3010
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Oligodontia, Supernumerary tooth ORPHA:1264
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Dental crowding, Macroglossia, Long philtrum, Delayed eruption of teeth, Camptodacty... OMIM:616354
Tetrasomy 12P
Thick upper lip vermilion, Abnormal soft palate morphology, Everted lower lip vermilion, Long phi... ORPHA:884
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Craniofacial-Deafness-Hand Syndrome
Short nose, Hypoplasia of the maxilla, Malar flattening OMIM:122880
Oculotrichodysplasia
Widely spaced primary teeth, Agenesis of permanent teeth, Microdontia of primary teeth, Carious t... OMIM:257960
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Lipoatrophy, Advanced... ORPHA:1133
Oculocerebrodental Syndrome
Retrognathia, Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia ORPHA:557003
Immunodeficiency 49
Micrognathia, Short philtrum, Natal tooth, Umbilical hernia OMIM:617237
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Mandibular prognathia, Dental malocclusion OMIM:618292
Osteoglosphonic Dysplasia
Micrognathia, Tooth agenesis, Inguinal hernia, Multiple unerupted teeth ORPHA:2645
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters, Arthrogryposis multiplex congenita, Atrophic scars OMIM:226730
Pycnodysostosis
Narrow palate, Persistence of primary teeth, Hypodontia, Micrognathia, Carious teeth, Delayed eru... OMIM:265800
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Narrow mouth, Tooth malposition, Hypodontia, Abnormality of the dentiti... ORPHA:363417
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth ORPHA:375
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening OMIM:614727
Hypophosphatasia, Childhood
Premature loss of primary teeth, Carious teeth OMIM:241510
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Dental malocclusion, Mandibular prognathia, Abnormality of the dentition ORPHA:1858
Coffin-Siris Syndrome 3
Wide mouth, Delayed eruption of permanent teeth, Macroglossia OMIM:614608
Dysosteosclerosis
Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:1782
Momo Syndrome
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Long philtrum, Delayed ... ORPHA:2563
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Widely spaced teeth, Delayed eruption of teeth, Thick lower lip vermilion OMIM:619797
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Tooth agenesis, Narrow palate, Congenital diaphragmatic hernia, Inguinal hernia, Micrognathia, Mu... ORPHA:2063
Cherubism
Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Macular scar, Oligodontia, Jaw swe... OMIM:118400
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Camptodactyly of finger, Taurodontia, Abnormal dental enamel morpho... ORPHA:3220
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Thin vermilion border, Micrognathia, Delayed eruption of teeth, Hypoplasia of the ma... OMIM:601812
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Malar flattening, Bilateral cleft lip and palate, Enamel hypoplasia, Ankyloglossia, ... OMIM:618874
Mandibulofacial Dysostosis With Alopecia
Cleft palate, Everted lower lip vermilion, Glossoptosis, Micrognathia, Hypoplasia of the maxilla,... OMIM:616367
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Persistence of primary teeth OMIM:147060
Craniosynostosis 3
Dental malocclusion OMIM:615314
Hall-Riggs Syndrome
Wide mouth, Delayed eruption of teeth, Downturned corners of mouth, Thick vermilion border, Abnor... ORPHA:2107
Oslam Syndrome
Carious teeth ORPHA:2760
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Micrognathia, De... OMIM:264475
Usher Syndrome Type 2
Abnormality of dental color, Microdontia, Abnormal dental enamel morphology, Carious teeth ORPHA:231178
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Cole-Carpenter Syndrome 2
High palate, Dentinogenesis imperfecta, Microretrognathia OMIM:616294
Odontochondrodysplasia 1
Long philtrum, Delayed eruption of teeth, Dentinogenesis imperfecta OMIM:184260
Pachyonychia Congenita 2
Angular cheilitis, Oral leukoplakia, Natal tooth OMIM:167210
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Recurrent skin infections ORPHA:79503
4H Leukodystrophy
Abnormality of the dentition, Hypodontia, Delayed eruption of teeth ORPHA:289494
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Char Syndrome
No permanent dentition, Persistence of primary teeth, Triangular mouth, Malar flattening, Everted... ORPHA:46627
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Mandibular prognathia, Advanced eruption of teeth OMIM:262190
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Premature loss of teeth, Periodontitis, Dentinogenesis imperfecta, Retrognathia, Delayed eruption... OMIM:619269
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
Osteogenesis Imperfecta, Type Iii
Micrognathia, Dentinogenesis imperfecta OMIM:259420
Lowry-Maclean Syndrome
High, narrow palate, Cleft palate, Congenital diaphragmatic hernia, Retrognathia, Micrognathia, I... ORPHA:2409
Cranioectodermal Dysplasia 4
Thin vermilion border, Taurodontia, Smooth philtrum OMIM:614378
Enamel-Renal Syndrome
Abnormal dental enamel morphology, Gingival overgrowth, Delayed eruption of teeth, Yellow-brown d... ORPHA:1031
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Hypophosphatasia, Adult
Chondrocalcinosis, Premature loss of permanent teeth, Premature loss of primary teeth, Carious teeth OMIM:146300
Blepharo-Cheilo-Odontic Syndrome
Bilateral cleft lip and palate, Conical tooth, Carious teeth ORPHA:1997
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Maxillonasal Dysplasia
Tooth agenesis, Cleft palate, Open bite, Microdontia, Short nose, Hypoplasia of the maxilla, Mand... ORPHA:1248
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Corneal scarring, Narrow mouth, Oral mucosal blisters, Flexion contracture, Enamel hypoplasia, At... OMIM:226600
Craniometadiaphyseal Dysplasia
High palate, Malar flattening, Microdontia, Carious teeth, Natal tooth, Dental crowding, Mandibul... OMIM:269300
Ohdo Syndrome
Narrow mouth, Thin vermilion border, Micrognathia, Long philtrum, Widely spaced teeth, Hypoplasia... OMIM:249620
Malan Syndrome
Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o... OMIM:614753
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Orofacial Cleft 15
Palate fistula, Agenesis of lateral incisor, Bilateral cleft lip, Bilateral cleft palate OMIM:616788
Brachydactyly, Type B1
Delayed eruption of permanent teeth, Joint contracture of the hand, Camptodactyly OMIM:113000
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Death in childhood, Thrombocytosis, Impaired... OMIM:243150
48,Xxxy Syndrome
Taurodontia, Cleft palate, Open bite, Inguinal hernia, Delayed eruption of teeth, Carious teeth, ... ORPHA:96263
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Mandibular osteomyelitis, Persistence of primary teeth, Carious teeth OMIM:259710
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Dental malocclusion, Narrow mouth, Open bite, Abnormality of dental eruption, Campto... ORPHA:1327
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Hypodontia, Cleft palate, Oligodontia, Enamel hypoplasia, Thick vermilion border... OMIM:619184
Immunodeficiency 76
Lymphopenia, Splenomegaly, Death in childhood, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Classic Mycosis Fungoides
Skin rash, Splenomegaly, Eczema, Hyperkeratosis, Pruritus, Edema, Abnormal lymphocyte morphology,... ORPHA:2584
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Supernumerary tooth, Agenesis of molar, Diastema, Microdontia OMIM:619718
Coffin-Siris Syndrome 2
High palate, Wide mouth, Cleft palate, Macroglossia, Inguinal hernia, Short philtrum, Long philtr... OMIM:614607
Tooth Agenesis, Selective, 4
Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Peg-shaped maxillary l... OMIM:150400
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, Long philtrum, Delayed e... ORPHA:50814
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... OMIM:614493
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, High, narrow palate, Micrognathia, Short phil... OMIM:216550
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... OMIM:602450
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Hypodontia, Joint contracture of the hand, Camptodactyly of fin... OMIM:612350
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Perifolliculitis, Acne inversa, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Prominent frontal sinuses, Persistence of primary teeth, Cleft palate, Malar flatten... OMIM:170390
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth OMIM:609638
Flynn-Aird Syndrome
Carious teeth OMIM:136300
Blepharophimosis-Impaired Intellectual Development Syndrome
Dental malocclusion, Wide mouth, Flexion contracture, Short philtrum, Microdontia, Enamel hypopla... OMIM:619293
Acrocraniofacial Dysostosis
Micrognathia, Short philtrum, Natal tooth, Cleft palate OMIM:201050
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Mandibular prognathia, Malar flattening, Abnormal dental enamel morphology ORPHA:2180
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta OMIM:166200
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Persistence of primary teeth, Hiatus hernia, Umbilical hernia OMIM:619769
Scarf Syndrome
Inguinal hernia, Long philtrum, Enamel hypoplasia, Umbilical hernia, Hypocalcification of dental ... ORPHA:3134
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death, Neutropenia OMIM:257100
X-Linked Non-Syndromic Intellectual Disability
Thin upper lip vermilion, Long philtrum, Delayed eruption of teeth, Thick lower lip vermilion ORPHA:777
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Temtamy Syndrome
Dental crowding, Hypoplasia of teeth, Micrognathia, Long philtrum OMIM:218340
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Temple-Baraitser Syndrome
High palate, Wide mouth, Gingival overgrowth, Malar flattening, Everted lower lip vermilion, Long... ORPHA:420561
Chst3-Related Skeletal Dysplasia
Long philtrum, Delayed eruption of teeth, Flexion contracture ORPHA:263463
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Tented upper lip vermilion, Incisor macrodontia, Abnormality of primary teeth, Thin ... ORPHA:438216
49,Xxxxy Syndrome
Taurodontia, Cleft palate, Open bite, Delayed eruption of teeth, Carious teeth, Mandibular progna... ORPHA:96264
X-Linked Intellectual Disability Due To Gria3 Mutations
Narrow palate, Macrodontia of permanent maxillary central incisor, Malar flattening, Short philtr... ORPHA:364028
Aarskog-Scott Syndrome
Cleft upper lip, Cleft palate, Everted lower lip vermilion, Inguinal hernia, Abnormality of the d... ORPHA:915
Oculofaciocardiodental Syndrome
Tooth malposition, Cleft palate, Flexion contracture of the 2nd toe, Abnormality of the dentition... ORPHA:2712
Trichodermodysplasia-Dental Alterations Syndrome
Abnormality of dental morphology, Tooth agenesis, Supernumerary tooth, Delayed eruption of teeth ORPHA:3353
Trisomy 9P
Downturned corners of mouth, Impacted tooth, Dental crowding, Non-midline cleft lip ORPHA:236
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Narrow mouth, Narrow palate, Thick lower lip vermilion, Carious teeth ORPHA:457365
Pycnodysostosis
High palate, Dental malocclusion, Obtuse angle of mandible, Persistence of primary teeth, Hypodon... ORPHA:763
Pachyonychia Congenita
Angular cheilitis, Oral leukoplakia, Advanced eruption of teeth, Natal tooth ORPHA:2309
Isolated Cleft Lip
Velopharyngeal insufficiency, Hypodontia, Macrodontia, Supernumerary maxillary incisor, Bilateral... ORPHA:199302
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:617571
Auriculocondylar Syndrome 1
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Anterior open-bite m... OMIM:602483
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth OMIM:264700
Seckel Syndrome 1
High palate, Dental malocclusion, Cleft palate, Micrognathia, Enamel hypoplasia, Elbow flexion co... OMIM:210600
Codas Syndrome
Abnormality of dental morphology, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:1458
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth OMIM:277440
Three M Syndrome 2
High palate, Dental malocclusion, Malar flattening, Long philtrum, Delayed eruption of teeth, Thi... OMIM:612921
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Cole-Carpenter Syndrome
Micrognathia, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2050
Osteogenesis Imperfecta, Type X
Micrognathia, Inguinal hernia, Dentinogenesis imperfecta, Malar flattening OMIM:613848
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Oligodontia, Hypodontia, Delayed eruption of teeth, Natal tooth OMIM:614381
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Flexion contracture, Thin vermilion border, Micrognathia, Long phi... OMIM:214150
Olmsted Syndrome, X-Linked
Blepharitis, Posterior blepharitis, Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Hyperk... OMIM:300918
Smith-Magenis Syndrome
Cleft upper lip, Taurodontia, Cleft palate, Micrognathia, Short philtrum, Tented upper lip vermil... ORPHA:819
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Microretrognathia, Cleft palate, Camptodactyly, Hypoplasia of the maxilla OMIM:246560
Cleft Velum
Velopharyngeal insufficiency, Hypoplasia of the maxilla, Cleft soft palate ORPHA:99772
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor OMIM:616202
Helsmoortel-Van Der Aa Syndrome
Wide mouth, Everted lower lip vermilion, Long philtrum, Advanced eruption of teeth, Widely spaced... OMIM:615873
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Retrognathia, Abnormal palate morphology, Malar flattening, Carious teeth ORPHA:1390
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Widely spaced teeth, Hypoplasia of teeth, Microdontia, Cleft palate ORPHA:2728
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla ORPHA:2776
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Premature loss of teeth, Short philtrum, Hypoplasia of the maxilla OMIM:156510
Oculodentodigital Dysplasia
Cleft upper lip, Premature loss of teeth, Taurodontia, Cleft palate, Microdontia, Carious teeth, ... OMIM:164200
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla OMIM:608432
Familial Multiple Lipomatosis
Lipodystrophy, Odontogenic keratocysts of the jaw, Premature eruption of permanent teeth, Increas... ORPHA:199276
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Specific Granule Deficiency 2
Amelogenesis imperfecta, Conical tooth, Tooth malposition OMIM:617475