Gene Summary

Name:
FAM20A, golgi associated secretory pathway pseudokinase
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
short tibia Fam20atm1b(KOMP)Wtsi HOM Early adult 1.00×10-10
decreased total body fat amount Fam20atm1b(KOMP)Wtsi HOM Early adult 7.66×10-05
abnormal kidney morphology Fam20atm1b(KOMP)Wtsi HOM Early adult 0.00
corneal opacity Fam20atm1b(KOMP)Wtsi HOM Early adult 2.64×10-11
decreased body length Fam20atm1b(KOMP)Wtsi HOM Early adult 7.75×10-05
increased bone mineral content Fam20atm1b(KOMP)Wtsi HOM Early adult 3.77×10-07
abnormal tooth morphology Fam20atm1b(KOMP)Wtsi HOM Early adult 2.30×10-06

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 4)
Aorta N/A heterozygote 50% (2 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 100% (4 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 100% (4 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 75% (3 of 4)
Cerebellum N/A heterozygote 100% (4 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote 50% (2 of 4)
Colon N/A heterozygote 75% (3 of 4)
Diaphragm N/A heterozygote 50% (2 of 4)
Duodenum N/A heterozygote 0.0% (0 of 4)
Epididymis N/A heterozygote 50% (2 of 4)
Esophagus N/A heterozygote 25% (1 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 75% (3 of 4)
Harderian gland N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 50% (2 of 4)
Jejunum N/A heterozygote 25% (1 of 4)
Kidney N/A heterozygote 50% (2 of 4)
Large intestine N/A heterozygote 75% (3 of 4)
Liver N/A heterozygote 50% (2 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 50% (2 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 75% (3 of 4)
Mesenteric lymph node N/A heterozygote 50% (2 of 4)
Midbrain N/A heterozygote 100% (4 of 4)
Olfactory lobe N/A heterozygote 75% (3 of 4)
Ovary N/A heterozygote 25% (1 of 4)
Oviduct N/A heterozygote 25% (1 of 4)
Pancreas N/A heterozygote 75% (3 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 50% (2 of 4)
Penis N/A heterozygote 25% (1 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 25% (1 of 4)
Prostate gland N/A heterozygote 25% (1 of 4)
Quadriceps N/A heterozygote 25% (1 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 100% (4 of 4)
Small intestine N/A heterozygote 50% (2 of 4)
Spinal cord N/A heterozygote 50% (2 of 4)
Spleen N/A heterozygote 75% (3 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 50% (2 of 4)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 25% (1 of 4)
Testis N/A heterozygote 50% (2 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 50% (2 of 4)
Tongue N/A heterozygote 75% (3 of 4)
Trachea N/A heterozygote 50% (2 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Urinary bladder N/A heterozygote 75% (3 of 4)
Uterus N/A heterozygote 50% (2 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vas deferens N/A heterozygote 50% (2 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 25% (1 of 4)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Hind Leg and Hip

10 Images

Adult LacZ

LacZ Images Wholemount

53 Images

Adult LacZ

LacZ Images Section

60 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Histopathology

Images

4 Images

Human diseases caused by Fam20a 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 Fam20a by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Fam20a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Trichodentoosseous Syndrome
Taurodontia, Microdontia, Widely spaced teeth OMIM:190320
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79406
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia OMIM:226650
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology ORPHA:1653
Junctional Epidermolysis Bullosa Inversa
Atrophic scars, Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79405
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Taurodontism
Taurodontia OMIM:272700
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Stimmler Syndrome
Abnormal dental enamel morphology, Aminoaciduria, Microdontia ORPHA:3199
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Scarring alopecia of scalp, Carious teeth OMIM:619787
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Carious teeth, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Intermediate Generalized Junctional Epidermolysis Bullosa
Atrophic scars, Scarring alopecia of scalp, Enamel hypoplasia, Oral mucosal blisters ORPHA:79402
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Jalili Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta ORPHA:1873
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
High palate, Enamel hypoplasia, Retrognathia OMIM:617915
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... ORPHA:1946
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Malar flattening, Thin vermilion border ORPHA:139474
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Flexion contracture, Carious teeth, Generalized hypoplasia of dental enamel OMIM:203550
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Epidermolysis Bullosa, Junctional 1B, Severe
Atrophic scars, Carious teeth, Enamel hypoplasia OMIM:226700
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Ename... OMIM:618349
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Urethral stricture, Increased connective tissue, Scarring alopecia of scalp, Ename... OMIM:226670
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia OMIM:613576
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atypical scarring of skin, Scarring alopecia of scalp, Enamel hypoplasia, Abn... ORPHA:251393
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Hall-Riggs Syndrome
Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Microdontia of pri... OMIM:234250
48,Xyyy Syndrome
Recurrent upper respiratory tract infections, Long philtrum, Thick lower lip vermilion, Enamel hy... ORPHA:99329
Alopecia Antibody Deficiency
Abnormality of dental color, Recurrent respiratory infections ORPHA:1006
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Vascular calcification, Nephrocalcinosis, Taurodontia, Increased renal tubular phosphate reabsorp... OMIM:211900
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man... ORPHA:2325
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Microretrognathia, Tooth agenesis, Micrognathia, Inguinal hernia, Hip contracture,... OMIM:618363
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Atkin-Flaitz Syndrome
Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... ORPHA:1193
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Enamel hypoplasia OMIM:614564
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ... OMIM:118651
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Narrow mouth, Coarctation of aorta, Thin vermilion border, Incisor macrodontia, Pa... OMIM:615502
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Cranioectodermal Dysplasia
Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia, Taurodontia, Hypodo... ORPHA:1515
Heimler Syndrome 2
Amelogenesis imperfecta, Dental crowding OMIM:616617
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Micrognathia, Malar flattening, Hypodontia, Enamel hypoplasia, Ectopic kidney, ... OMIM:212780
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth OMIM:616029
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Usher Syndrome Type 2
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:231178
Trichodental Dysplasia
Hypodontia, Conical tooth, Odontodysplasia OMIM:601453
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis OMIM:217080
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Seckel Syndrome 5
Retrognathia, Selective tooth agenesis, Micrognathia, Oligodontia, Hypodontia, Enamel hypoplasia,... OMIM:613823
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Yellow-brown discoloration of the teeth, Delayed er... ORPHA:1031
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Tetralogy of Fallot, Crossed fused renal ec... ORPHA:2919
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Ectodermal Dysplasia-Syndactyly Syndrome 1
Conical tooth, Enamel hypoplasia, Widely spaced teeth OMIM:613573
Winchester Syndrome
Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Corneal opacity, Gener... OMIM:277950
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Filippi Syndrome
Serrated incisors, Abnormal dental morphology, Microdontia, Hypodontia, Thin vermilion border, Sh... OMIM:272440
Sjogren-Larsson Syndrome
Flexion contracture, Enamel hypoplasia OMIM:270200
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Oculoskeletodental Syndrome
Abnormality of the dentition, Nephrocalcinosis, Retrognathia, Microdontia, Oligodontia, Stroke, E... ORPHA:557003
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypoplasia of teeth, Carious teeth, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Nephropathy, Cerebral calcification, Delayed eruption of teeth ORPHA:2238
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Absent frontal sinuses, Hypodontia, Enamel hy... OMIM:253250
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv... OMIM:618729
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Recurrent respiratory infections, Thick lowe... ORPHA:10
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Thin upper lip vermilion, Achilles tendon contracture, Incisor macrodontia, ... OMIM:619719
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia OMIM:612843
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Enamel hypoplasia, Everted lower lip vermilion, Thick vermilion bor... OMIM:619980
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Umbilical hernia, Inguinal hernia, Taurodontia, Enamel hypoplasia, High palate OMIM:618205
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Atrophic scars, Oral mucosal blisters, Urethrovesical occlusion, Enamel hypoplasia, Arthrogryposi... OMIM:226730
Intellectual Disability, Birk-Barel Type
High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion... ORPHA:166108
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Micrognathia, Increased overbite... OMIM:613684
Tooth Agenesis, Selective, 3
Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia OMIM:604625
Ramon Syndrome
Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth ORPHA:3019
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Maxi... OMIM:300602
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Microglossia, Sandal gap, Short tibia, Short thumb, Radial c... ORPHA:1972
Nance-Horan Syndrome
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar OMIM:302350
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Anonychia With Flexural Pigmentation
Carious teeth ORPHA:69125
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan... ORPHA:69087
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening, Hemolytic-uremic syndrome OMIM:614727
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Mucous Membrane Pemphigoid
Gingivitis, Atypical scarring of skin, Oral mucosal blisters, Corneal opacity ORPHA:46486
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Low urinary cyclic AMP response to PTH administration, Basal ganglia c... OMIM:612462
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Nephrocalcinosis, Enuresis, Gingival overgrowth, Renal insuffi... OMIM:204690
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... ORPHA:2025
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Low urinary cyclic AMP response to PTH administration, Basal ganglia c... OMIM:103580
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization ORPHA:494444
Cockayne Syndrome Type 2
Widely spaced primary teeth, Hypoplasia of the primary teeth, Subcortical white matter calcificat... ORPHA:90322
Cranioectodermal Dysplasia 4
Recurrent pneumonia, Stage 5 chronic kidney disease, Taurodontia, Smooth philtrum, Thin vermilion... OMIM:614378
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Ophthalmomandibulomelic Dysplasia
Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Micromelia, Lateral hume... ORPHA:2741
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Steatocystoma Multiplex
Natal tooth OMIM:184500
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Enamel hypoplasia, Widely spaced teeth OMIM:620193
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d... ORPHA:93323
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypospadias, Recurrent pneumonia, Enuresis, Dental malocclusion, Widely spaced teeth, Recurrent b... OMIM:619293
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... ORPHA:2228
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilion, Bilateral clef... OMIM:618874
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormality of the dentition, Multicystic kidney dysplasia, Carious teeth, Abnormal palate morpho... ORPHA:3270
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ... OMIM:618727
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Reduced bone mineral ... ORPHA:2501
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Abnormal dental enamel morphology, Hypodontia, Scarring alopecia of scalp, Oligodontia ORPHA:59303
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Nephrolithiasis, Hypodontia, Hypoplasia of penis, Hypospadias, Shagree... ORPHA:1816
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Camptodactyly of finger, Abnormal dental enamel morphology, Cerebra... ORPHA:3220
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Enamel hypoplasia OMIM:245660
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Calcification Of Joints And Arteries
Tibial arterial calcification, Femoral arterial calcification, Iliac arterial calcification, Peri... OMIM:211800
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Micrognathia, Microdontia OMIM:610706
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Abnormal dental morphology, Hyperphosphaturia, Coarctation of aorta, Abnormalit... OMIM:163200
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Narrow mouth, Reduced bone mineral density, Abnormal meta... ORPHA:2370
Qazi-Markouizos Syndrome
High, narrow palate, Hypoplasia of teeth, Open mouth, Broad philtrum ORPHA:3010
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Odontochondrodysplasia
Dentinogenesis imperfecta, Patent ductus arteriosus, Delayed eruption of teeth, Retrognathia ORPHA:166272
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Abnormal palate morphology ORPHA:3236
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormality of the ureter, Narrow m... ORPHA:1133
Rapp-Hodgkin Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc... OMIM:129400
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum ORPHA:3214
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Hy... OMIM:612447
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo... OMIM:157980
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Microdontia, Deep philtrum, Talon cusp, Cleft palate OMIM:605282
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Hypoplasia of teeth, Flexion contracture, Accessory oral frenulum ORPHA:88630
Scarf Syndrome
Long philtrum, Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Hypocalcification of dental ... ORPHA:3134
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Misalignment of incisors, Oligodontia, Hypodontia, Enamel hypoplasia, Thick verm... OMIM:619184
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Pyle Disease
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... OMIM:265900
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta OMIM:301014
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Cerebral calcification, Micrognathia, Supernumer... ORPHA:3145
48,Xxxy Syndrome
Carious teeth, Delayed eruption of teeth, Recurrent respiratory infections, Open bite, Abnormal d... ORPHA:96263
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Metacarpal osteolysis, ... OMIM:166300
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Vesi... OMIM:619217
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Ohdo Syndrome
Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Proteinuria, Smooth philtrum, Thi... OMIM:249620
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Natal tooth, Congenital diaphragmatic hernia ORPHA:99811
Pseudoxanthoma Elasticum, Forme Fruste
High, narrow palate, Medial calcification of large arteries, Calcification of falx cerebri, Media... OMIM:177850
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Immunodeficiency 33
Hypodontia, Conical tooth, Delayed eruption of teeth OMIM:300636
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Atrophic scars, Corneal scarring, Narrow mouth, Oral mucosal blisters, Enamel hypoplasia, Flexion... OMIM:226600
Self-Improving Dystrophic Epidermolysis Bullosa
Atrophic scars, Carious teeth, Oral mucosal blisters ORPHA:79411
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Retrognathia, Long philtrum, Short tibia,... ORPHA:2756
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Seckel Syndrome 1
Dental malocclusion, Dental crowding, Selective tooth agenesis, Elbow flexion contracture, Microg... OMIM:210600
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, High palate OMIM:613849
Usher Syndrome
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:886
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Pseudohypoparathyroidism Type 1B
Low urinary cyclic AMP response to PTH administration, Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
49,Xxxxy Syndrome
Carious teeth, Delayed eruption of teeth, Recurrent respiratory infections, Open bite, Abnormal d... ORPHA:96264
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Diastema, Agenesis of molar, Microdontia, Micropenis, Supernumerary tooth, Hypospadias OMIM:619718
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Temtamy Syndrome
Dental crowding, Long philtrum, Micrognathia, Aortic aneurysm, Hypoplasia of teeth OMIM:218340
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Delayed eruption of permanent teeth ORPHA:839
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Inguinal hernia, Increase... OMIM:618761
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Atheroscleros... ORPHA:1830
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Mucopolysaccharidosis Type 4
Abnormality of the dentition, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, H... ORPHA:582
Hypophosphatasia, Childhood
Elevated urine pyrophosphate, Carious teeth, Premature loss of primary teeth, Phosphoethanolaminuria OMIM:241510
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Retrognathia, Enamel hypoplasia, Patent ductus a... OMIM:614576
Knobloch Syndrome 2
Micrognathia, Enamel hypoplasia, Abnormal pulmonary interstitial morphology, Recurrent respirator... OMIM:618458
Eem Syndrome
Carious teeth, Selective tooth agenesis, Widely spaced teeth, Abnormal dental morphology, Microdo... ORPHA:1897
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Oral mucosal blisters, Hematuria, Urethral stricture, ... ORPHA:79403
Lowry-Maclean Syndrome
High, narrow palate, Hypoplasia of the maxilla, Downturned corners of mouth, Retrognathia, Microg... ORPHA:2409
Dysosteosclerosis
Abnormal dental enamel morphology, Craniofacial hyperostosis, Cerebral calcification, Delayed eru... ORPHA:1782
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Abnormality of canine, Hypoplasia of the maxilla, Abnormality of the dentition... ORPHA:363417
Hereditary Arterial And Articular Multiple Calcification Syndrome
Coronary artery calcification, Arterial calcification, Abnormal vascular morphology, Arterial tor... ORPHA:289601
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal hip bone morphology, Inguinal hernia, Corneal opacity, Hypopl... ORPHA:577
Specific Granule Deficiency 2
Tooth malposition, Conical tooth, Recurrent pneumonia, Amelogenesis imperfecta OMIM:617475
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m... ORPHA:364028
Andersen-Tawil Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Renal hypoplasia, Dental crowding, Persi... ORPHA:37553
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Widely spaced teeth, Microdontia, Proteinuria, Hypoplasia of teeth,... ORPHA:2728
Raine Syndrome
Mandibular prognathia, Natal tooth, Hydroureter, Arthrogryposis multiplex congenita, Cerebral cal... OMIM:259775
Dermatitis Herpetiformis
Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth ORPHA:1656
Mucopolysaccharidosis, Type Iva
Recurrent upper respiratory tract infections, Carious teeth, Recurrent pneumonia, Chondroitin sul... OMIM:253000
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Median cleft palate, Corneal opacity ORPHA:2432
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Nephronophthisis, Delayed eruption of teeth, Long philtrum, Recurrent ... OMIM:184260
Oculodentodigital Dysplasia
Carious teeth, Selective tooth agenesis, Cleft upper lip, Basal ganglia calcification, Joint cont... OMIM:164200
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly OMIM:300484
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the dentition, Carious teeth, Hypoplasia of the zygomatic bone, Cleft upper lip, A... ORPHA:3253
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, High palate, Mandibular prognathia, Malar flattening ORPHA:2180
Mucopolysaccharidosis, Type Ivb
Recurrent upper respiratory tract infections, Carious teeth, Chondroitin sulfate excretion in uri... OMIM:253010
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Foot joint contracture, ... ORPHA:444072
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... ORPHA:1811
Smith-Magenis Syndrome
Cleft upper lip, Abnormality of the ureter, Micrognathia, Open mouth, Tented upper lip vermilion,... ORPHA:819
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla... OMIM:170390
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Pers... ORPHA:763
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Codas Syndrome
Abnormal dental enamel morphology, Abnormal dental morphology, Hydroureter, Delayed eruption of t... ORPHA:1458
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Microgn... ORPHA:2863
Acrootoocular Syndrome
High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Grayish enamel... ORPHA:2980
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Hall-Riggs Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morphology, Thick ... ORPHA:2107
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Enamel hypoplasia, Delayed eruption of teeth OMIM:264700
Dermoids Of Cornea
Corneal opacity OMIM:304730
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Enamel hypoplasia, Delayed eruption of teeth OMIM:277440
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Orofaciodigital Syndrome Iv
Toe syndactyly, Lobulated tongue, Short tibia, Clinodactyly, Hamartoma of tongue, Short finger, M... OMIM:258860
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Corneal opac... OMIM:271530
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption, Umbilical hernia OMIM:606893
Xfe Progeroid Syndrome
Corneal scarring, Renal insufficiency, Absence of subcutaneous fat, Proteinuria, Enamel hypoplasi... OMIM:610965
Cockayne Syndrome Type 1
Abnormality of the dentition, Foot joint contracture, Widely spaced primary teeth, Basal ganglia ... ORPHA:90321
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Narrow mouth, Pulmonary lymphangiectasia, Ectopic kidney, Pleural ... OMIM:235510
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Wide mouth, Enamel hypoplasia, Abnormality of the dentition OMIM:615802
Scarf Syndrome
Long philtrum, Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Micropenis, Perineal hypospa... OMIM:312830
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hypodontia, Enamel hypoplasia, Oligodontia OMIM:607626
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, Narrow mouth, 11 pairs of... OMIM:201170
Arterial Calcification, Generalized, Of Infancy, 1
Arterial stenosis, Carotid artery calcification, Renal artery stenosis, Periarticular calcificati... OMIM:208000
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis, Chronic sinusitis OMIM:300455
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Detrusor sphincter dyssynergia, Retrognathia,... ORPHA:466722
Cerebellofaciodental Syndrome
Taurodontia, Macrodontia of permanent maxillary central incisor, Dental malocclusion OMIM:616202
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Broad long bones, Sclerosis of middle finger phalanx, Humerus varus, Fibular bowin... ORPHA:85188
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Flexion contracture, Generalized lipodystrophy, Micrognathia, Narrow mouth, Stag... OMIM:608612
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, High palate, ... ORPHA:438216
Calciphylaxis
Cellulitis, Stage 5 chronic kidney disease, Arterial calcification ORPHA:280062
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, M... ORPHA:50814
Den Hoed-De Boer-Voisin Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ... OMIM:619229
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Atypical scarring of skin OMIM:229200
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta OMIM:613982
Alpha-Mannosidosis
Cataract, Craniofacial hyperostosis, Dental malocclusion, Widely spaced teeth, Open bite, Gingiva... ORPHA:61
Cockayne Syndrome Type 3
Vascular calcification, Unilateral renal agenesis, Renal hypoplasia, Carious teeth, Hydroureter, ... ORPHA:90324
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion OMIM:619692
Chronic Mucocutaneous Candidiasis
Abnormal lip morphology, Abnormal dental enamel morphology, Hematuria, Recurrent respiratory infe... ORPHA:1334
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Congenital pulmonary airway malformation, Enamel hypoplasia, Om... OMIM:243150
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Retrognathia, Long philtrum, Micrognathia, Narrow mouth, Wide mouth, Hypodontia, T... OMIM:620250
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nephrocalcinosis, Enamel hypoplasia OMIM:240300
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, High ... OMIM:268305
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Micrognathia, Microdontia OMIM:112240
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... ORPHA:1798
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia ORPHA:181
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Moyamoya phenomenon, Dilatation of the cerebral artery, Microdontia, Enamel hypopla... OMIM:210720
Orofaciodigital Syndrome I
Carious teeth, Microretrognathia, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis o... OMIM:311200
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Abnormality of the dentition, Hydroureter, Delayed eruption of t... ORPHA:289
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Stage 5 chronic kidney disease... OMIM:248190
Anti-Glomerular Basement Membrane Disease
Vasculitis, Persistence of primary teeth, Renal insufficiency, Proteinuria, Hematuria ORPHA:375
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypocalciuria, Dental malocclusion, Dilation of Virchow-Robin spaces, Long philtrum, Hypophosphat... ORPHA:73223
Kilquist Syndrome
Hypoplasia of teeth, Mandibular prognathia, Wide mouth OMIM:619080
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Moderate albuminuria, Periodontitis, Retrognathia, Hydronephrosis, Del... OMIM:619269
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Hi... OMIM:619736
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Cranioectodermal Dysplasia 3
Peripheral pulmonary artery stenosis, Nephronophthisis, Widely spaced teeth, Micrognathia, Stage ... OMIM:614099
Hamamy Syndrome
Dental malocclusion, Long philtrum, Micrognathia, Inguinal hernia, Thin upper lip vermilion, Hypo... OMIM:611174
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Megalocornea, Temporomandibular joint ankylosis, ... OMIM:164900
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Congenital Syphilis
Pneumonia, Nephrotic syndrome, Hyperplasia of the maxilla, Mulberry molar, Notched primary centra... ORPHA:499009
Stuve-Wiedemann Syndrome 1
Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing o... OMIM:601559
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Hypophosphatasia, Adult
Chondrocalcinosis, Carious teeth, Premature loss of primary teeth, Premature loss of permanent teeth OMIM:146300
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth ORPHA:2050
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h... ORPHA:3329
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal dental enamel morphology, Macrodontia, Hypodontia, Vaginal hernia, Mandibular prognathia... ORPHA:2916
Arterial Calcification, Generalized, Of Infancy, 2
Coronary artery calcification, Nephrocalcinosis, Arterial calcification OMIM:614473
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Dental crowding, Contractures of the large joints,... ORPHA:2457
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Mietens Syndrome
Cataract, Microcornea, Avascular necrosis of the capital femoral epiphysis, Talipes, Coxa valga, ... ORPHA:2557
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Abnormality of the dentition, Mandibular prognathia, Dental malocclusion ORPHA:1858
Short Syndrome
Abnormality of the dentition, Abnormal mandible morphology, Megalocornea, Abnormal dental enamel ... ORPHA:3163
Sanjad-Sakati Syndrome
Abnormality of the dentition, Long philtrum, Recurrent respiratory infections, Abnormal dental en... ORPHA:2323
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bo... ORPHA:1106
Al-Gazali Syndrome
Osteopenia, Broad distal phalanx of finger, Micrognathia, Hydronephrosis, Wrist flexion contractu... OMIM:609465
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Solitary median maxillary central incisor, Hypodonti... ORPHA:952
Galactosialidosis
Corneal opacity ORPHA:351
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Hors... OMIM:613680
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, Camptoda... ORPHA:2710
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Hydronephrosis, Patent... OMIM:619797
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Toe syndactyly, Short tibia, Median cleft upper lip, Hand polydacty... OMIM:258865
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Wide mouth, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border OMIM:618506
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Flat acetabular roof, Cleft lip, Hamartoma of tongue, Fibular hypoplasi... OMIM:616300
Corneodermatoosseous Syndrome
Abnormal dental enamel morphology, Carious teeth, Gingivitis ORPHA:3194
Orofacial Cleft 15
Palate fistula, Inguinal hernia, Bilateral cleft palate, Bilateral cleft lip, Agenesis of lateral... OMIM:616788
Celiac Disease, Susceptibility To, 1
Recurrent aphthous stomatitis, Cerebral calcification, Stomatitis, Enamel hypoplasia OMIM:212750
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Carious teeth, Bilateral cleft palate ORPHA:1997
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Amelogenesis imperfecta, Hypocalcification of dental enamel ORPHA:169090
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Proteinuria, Membranoproliferative glomerulonephritis, Macrosc... ORPHA:251004
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Supernumerary tooth, Oligodontia ORPHA:1264
Acrofacial Dysostosis, Catania Type
Carious teeth, Micrognathia, Malar flattening, Hypospadias, Cleft palate OMIM:101805
Marshall Syndrome
Bifid uvula, Macrodontia of permanent maxillary central incisor, Long philtrum, Thick lower lip v... OMIM:154780
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Aortic aneurysm OMIM:166200
Bone Marrow Failure Syndrome 3
Downturned corners of mouth, Micrognathia, Oral ulcer, Microdontia, Hernia, Hypodontia, Amelogene... OMIM:617052
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Downturned corners of mouth, Long philtrum, Micrognathia, Narrow mouth, Dorsocervical fat pad, Ol... ORPHA:391408
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Immunodeficiency 10
Nephrotic syndrome, Amelogenesis imperfecta, Recurrent pneumonia OMIM:612783
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality of primary teeth,... OMIM:150400
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia OMIM:259420
Laron Syndrome
Delayed eruption of teeth, Tooth agenesis, Micrognathia, Microdontia, Hypoplasia of penis ORPHA:633
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Enamel hypoplasia, Delayed eruption of teeth ORPHA:289157
Bartsocas-Papas Syndrome 2
Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Absent distal phalanges, Bilat... OMIM:619339
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Nail-Patella Syndrome
Coronary artery dissection, Nephritis, Elbow flexion contracture, Contracture of the distal inter... ORPHA:2614
Eec Syndrome
Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, Vesicoureteral reflux, Microdon... ORPHA:1896
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Delayed eruption of teeth, Omphalocele OMIM:614450
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo... ORPHA:1452
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta OMIM:610968
Immunodeficiency 9
Recurrent aphthous stomatitis, Amelogenesis imperfecta, Stomatitis OMIM:612782
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border OMIM:601957
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, Thick vermilion border, Open mouth, Ureteropelvic junction obstruction, Ex... OMIM:300896
Cole-Carpenter Syndrome 2
Dentinogenesis imperfecta, High palate, Microretrognathia OMIM:616294
Tuberous Sclerosis 1
Dental enamel pits, Cerebral calcification, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma,... OMIM:191100
3M Syndrome
Delayed eruption of teeth, Long philtrum, Abnormal cerebral vascular morphology, Abnormal dental ... ORPHA:2616
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Retrognathia, Hypoplasia of the zygomatic bone, Abnormal dental enamel morphology, Inguinal herni... ORPHA:1812
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Downturned corners of... ORPHA:1110
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Dental crowding, Inguinal hernia, Knee flexion contracture, Achilles t... OMIM:620545
Cenani-Lenz Syndrome
High, narrow palate, Abnormal dental enamel morphology, Crossed fused renal ectopia, Malar flatte... ORPHA:3258
Developmental And Epileptic Encephalopathy 100
Recurrent respiratory infections, Elbow flexion contracture, Micrognathia, Gingival overgrowth, P... OMIM:619777
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypodontia, Carious teeth, Reduced subcutaneous adipose tissue, Limb joint contracture OMIM:612079
Dyskeratosis Congenita
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Oral leuko... ORPHA:1775
Cockayne Syndrome
Carious teeth, Basal ganglia calcification, Cerebral calcification, Reduced subcutaneous adipose ... ORPHA:191
Chand Syndrome
Hydroureter, Atelectasis, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid t... ORPHA:1401
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Hypospadias, Microglossia, Elbow flexion contracture, Prominent sca... OMIM:151050
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Retrognathia OMIM:234050
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Bilateral cleft palate, Hematuria, Posterior embryotoxon, Corneal opacity, Iris coloboma ORPHA:1473
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Osteogenesis Imperfecta, Type Xiii
Enuresis nocturna, Dentinogenesis imperfecta, Long philtrum, Umbilical hernia, Thin vermilion border OMIM:614856
Arthrogryposis And Ectodermal Dysplasia
Joint contracture of the hand, Atypical scarring of skin, Cleft upper lip, Abnormal dental enamel... OMIM:601701
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Cleidocranial Dysplasia 1
High, narrow palate, Narrow palate, Absent paranasal sinuses, Micrognathia, Hypoplastic frontal s... OMIM:119600
Pde4D Haploinsufficiency Syndrome
Hypospadias, Hypoplasia of the maxilla, Long philtrum, Abnormal dental enamel morphology, Microgn... ORPHA:439822