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Gene: Antxr1 MGI:1916788

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

anthrax toxin receptor 1

Synonyms:

2310008J16Rik, Tem8, 2810405N18Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Antxr1 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.

Human diseases associated with Antxr1 (3 diseases)
Human diseases predicted to be associated with Antxr1 (773 diseases)

The table below shows human diseases associated to Antxr1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Abnormal form of the vertebral bo...	ORPHA:2067
Gapo Syndrome	Delayed closure of the anterior fontanelle, Micrognathia, High, narrow palate, Wide anterior font...	OMIM:230740
Hemangioma, Capillary Infantile	Capillary hemangioma	OMIM:602089

The table below shows human diseases predicted to be associated to Antxr1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Abnormality of the denti...	OMIM:300604
Craniosynostosis 3	Hallux valgus, Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right ...	OMIM:615314
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Maxillonasal Dysplasia, Binder Type	Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion, Short distal phalanx of ...	OMIM:155050
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion...	ORPHA:1858
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Anonychia-Microcephaly Syndrome	Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition	ORPHA:1094
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t...	OMIM:265900
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal...	OMIM:144750
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Short 1st metacarpal, Hip dysplasia, Short middle phalanx of finger, H...	ORPHA:63442
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami	OMIM:141300
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Ovoid vertebral bodies, Metaphyseal widening, Dental malocclusion, Coxa vara, T...	OMIM:608940
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, Tapered finger, Long fingers, Dental malocclusion, High palate	OMIM:618292
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered fin...	OMIM:612350
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion, Brachydactyly	OMIM:619692
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Kyphosis, Thick lower lip verm...	OMIM:300602
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Short neck, Open bite...	ORPHA:61
Mcdonough Syndrome	Mandibular prognathia, Micrognathia, Open bite, Cryptorchidism, Kyphosis, Dental malocclusion, Sh...	ORPHA:2471
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Dental malocclusion, Kyphoscoliosis	OMIM:615541
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Dental malocclusion, ...	OMIM:619719
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Dental malocclusi...	OMIM:601957
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De...	OMIM:112350
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pa...	OMIM:613684
Steatocystoma Multiplex With Natal Teeth	Steatocystoma multiplex, Natal tooth	OMIM:184510
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Cone-shaped epiphysis, Platyspondyly, Short philtrum, Dentinogenesis i...	ORPHA:71267
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Clinodactyly, Dental malocclusion, Cone-shaped epiphyses of...	OMIM:602849
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Cleft palate	OMIM:600252
Pycnodysostosis	Persistent open anterior fontanelle, Delayed eruption of primary teeth, Persistence of primary te...	OMIM:265800
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Dental malocclusion, Widely spaced teeth	OMIM:616108
Osteogenesis Imperfecta, Type V	Hyperextensibility of the finger joints, Vertebral wedging, Abnormal pelvic girdle bone morpholog...	OMIM:610967
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel mor...	ORPHA:1077
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Hallux valgus, Brachydactyly, Toe syndactyly, Sacral dimple, Camptodactyly...	ORPHA:1327
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo...	ORPHA:763
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Spermatogenic Failure 81	Acrosomal hypoplasia, Multiple non-erupting secondary teeth, Oligozoospermia	OMIM:620277
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micrognathia, High pal...	OMIM:210600
Filippi Syndrome	Ambiguous genitalia, 2-4 toe syndactyly, Cryptorchidism, Cutaneous syndactyly, Finger clinodactyl...	OMIM:272440
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Enlarged joints, Kyphoscoliosis, Abnormality of the ...	ORPHA:263463
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Larsen-Like Syndrome	Joint dislocation, Kyphoscoliosis, Wide anterior fontanel, Dental malocclusion, Cleft palate, Rad...	OMIM:608545
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Dental crowding, Fifth finger ...	OMIM:257850
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Coxa valga, Cone-shaped epiphysis, Platyspon...	ORPHA:166272
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr...	ORPHA:2863
Trichorhinophalangeal Syndrome, Type I	Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses of the proxi...	OMIM:190350
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Diastema, Short neck, Dental malocclusion, Malar flattening, Brachydactyly	ORPHA:436245
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D...	OMIM:605282
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Odontochondrodysplasia 1	Genu recurvatum, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Fla...	OMIM:184260
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Hydrocele testis, Notched primary central incisor, Brachydactyly, Adducted thumb	OMIM:620062
Potocki-Shaffer syndrome	Abnormality of the male genitalia, Multiple exostoses, Delayed cranial suture closure	DECIPHER:34
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Wormian bones, Dental crowding, Broad long bones, Coxa valga,...	OMIM:269300
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Abnormal dental morphology, Abnormality of th...	ORPHA:210110
Three M Syndrome 2	Delayed eruption of teeth, Lumbar hyperlordosis, Short neck, Hyperlordosis, Dental malocclusion, ...	OMIM:612921
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Knee dislocation, Irregular vertebral endplates, High palate...	OMIM:618363
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft...	ORPHA:3104
Fanconi Anemia, Complementation Group S	Macrodontia, Proximal placement of thumb, Dental malocclusion, Breast carcinoma, Narrow palate, O...	OMIM:617883
Atkin-Flaitz Syndrome	Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macroorchidism...	ORPHA:1193
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Micrognathia, Bowing of the l...	OMIM:613849
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D...	OMIM:619797
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, High palate, Dental malocclusion	OMIM:608931
Lethal Osteosclerotic Bone Dysplasia	Micrognathia, Short neck, Large fontanelles, Gingival overgrowth, Gingival fibromatosis, Mandibul...	ORPHA:1832
Intellectual Disability, Birk-Barel Type	Sacral dimple, Tented upper lip vermilion, Micrognathia, High, narrow palate, Incisor macrodontia...	ORPHA:166108
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology, Exostoses	ORPHA:1653
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Harrod Syndrome	Arachnodactyly, Hypospadias, Cryptorchidism, Kyphosis, Dental malocclusion, Abnormal shoulder mor...	ORPHA:2115
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnormal zygomati...	ORPHA:2511
Mulibrey Nanism	Dental crowding, Nephroblastoma, Absent frontal sinuses, Thickened cortex of long bones, Hypoplas...	OMIM:253250
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Micropenis, Calvarial osteosclerosis, Cleft soft pala...	OMIM:616331
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Multiple small vertebral fractures, Slender long bone, Wormian bones, P...	OMIM:619795
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Decrease...	ORPHA:2980
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multipl...	OMIM:156510
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Short toe, Postaxial hand p...	ORPHA:2920
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp...	OMIM:618761
Cardiospondylocarpofacial Syndrome	Brachydactyly, High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Failure of...	ORPHA:3238
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Fin...	ORPHA:3352
Osteoglosphonic Dysplasia	Craniosynostosis, Micrognathia, Cryptorchidism, Abnormal form of the vertebral bodies, Tooth agen...	ORPHA:2645
Osteogenesis Imperfecta, Type Ix	Kyphosis, Dentinogenesis imperfecta, Platyspondyly, Scoliosis, Wormian bones, Short lower limbs	OMIM:259440
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Narrow mouth, Cryptorchidism, Cleft palate, Thin vermilion border, Long philtrum, ...	OMIM:615502
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Hypospadias, Wide anterior fonta...	OMIM:619736
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Beaking of vertebral bodies, Genu recurvatum, C...	ORPHA:137834
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Short neck, Short metatarsal, Pseudohypoparathyroidi...	OMIM:612463
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Micrognathia, Dental malocclusion, Wide mouth, High palat...	OMIM:610883
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Brachydactyly, Bowing of the long bones, Abnormal dental ena...	ORPHA:1798
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Grant Syndrome	Wormian bones, Down-sloping shoulders, Tibial bowing, Micrognathia	OMIM:138930
Cerebellofaciodental Syndrome	Tapered finger, Short neck, Cryptorchidism, Dental malocclusion, Shortening of all distal phalang...	OMIM:616202
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormal f...	ORPHA:1837
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Wide cranial sutures, Dental malocclusion, Clinodactyly of the 5th fing...	OMIM:619149
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Bent Bone Dysplasia Syndrome 1	Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Short cla...	OMIM:614592
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Short neck, Micrognathia, Cleft palate, Abnormal vertebral morphology	ORPHA:2015
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Short neck, Knee flexion contracture, Downturned corners of mouth, High palate, Int...	OMIM:265000
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers	OMIM:619489
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Abnormal pelvi...	ORPHA:3079
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Hypoplasia of penis, Hypergonadotropic hypogonadism, Abnorm...	ORPHA:10
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones, Dentinogenesis imperfecta	ORPHA:166277
Acrodysostosis	Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Abnormal form of the vertebra...	ORPHA:950
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Clinodactyly, Dental maloc...	OMIM:618727
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Hypospadias, Tapered finger, Cryptorchidism, D...	OMIM:619293
Beaulieu-Boycott-Innes Syndrome	Endometriosis, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion	OMIM:613680
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Small hand, Abnormal ora...	ORPHA:952
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Defo...	ORPHA:2975
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Vertebral seg...	ORPHA:2631
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Oropharyngeal squamous cell carcinoma, Carious teeth, Breast carcinoma, Conical incisor, Actinic ...	OMIM:614564
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ...	OMIM:600002
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Microdontia,...	ORPHA:181
Zimmermann-Laband Syndrome	Hallux valgus, Abnormal external genitalia, Micrognathia, Short neck, Supernumerary tooth, Gingiv...	ORPHA:3473
Premature Ovarian Failure 13	Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Ovoid vertebral bodies, Micrognathia, Coxa valga, Wide anterior fontanel, Short neck, Abnormality...	ORPHA:163649
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Wormian bones, Congenital hip dislocation	OMIM:614450
Momo Syndrome	Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Taurodonti...	OMIM:157980
Hao-Fountain Syndrome	Hallux valgus, Cryptorchidism, Large fontanelles, Clinodactyly of the 5th finger, Micropenis, Del...	OMIM:616863
Van Maldergem Syndrome 1	Irregular dentition, Wide cranial sutures, Tented upper lip vermilion, Short fourth metatarsal, H...	OMIM:601390
Myopathy, Myofibrillar, 8	Micrognathia, Spinal rigidity, Dental malocclusion, High palate, Joint contracture of the 5th fin...	OMIM:617258
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Platyspondyly, Widely spaced teeth...	OMIM:601216
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, External genital hypoplasia, Micrognathia, Short neck, Tibial bowing, High palat...	ORPHA:251028
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Hypodontia	ORPHA:1816
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Cox...	ORPHA:2484
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo...	ORPHA:1458
Aarskog-Scott Syndrome	Delayed eruption of teeth, Short palm, Finger syndactyly, Genu recurvatum, Camptodactyly of finge...	ORPHA:915
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis...	OMIM:302350
Van Maldergem Syndrome 2	Bifid scrotum, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Microgna...	OMIM:615546
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Micrognathia, Carious teeth, Flared metaphysis, Hypoplastic pubic ...	ORPHA:93346
Laron Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Micrognathia, Osteoarthritis, Abnormality of the ...	ORPHA:633
Trichodentoosseous Syndrome	Microdontia, Taurodontia, Widely spaced teeth	OMIM:190320
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Hypoplas...	ORPHA:1782
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Thin upper lip vermilion, Dental crowding, Sandal gap, Short toe, Pierre-Robin sequence, Anterior...	OMIM:617877
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ...	ORPHA:3353
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr...	ORPHA:50814
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Overlapping toe, Hypospadias, Endometriosis, Abnormality of the dentition, Carious teeth, Thin lo...	ORPHA:363444
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Hypospadias, Abnor...	ORPHA:2616
Acrofacial Dysostosis, Catania Type	Hypospadias, Carious teeth, Cryptorchidism, Short palm, Spina bifida occulta	OMIM:101805
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of permanent teeth, Thi...	OMIM:618506
Dysosteosclerosis	Micrognathia, Absent frontal sinuses, Increased intervertebral space, Hypoplastic vertebral bodie...	OMIM:224300
Hamamy Syndrome	Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Hypoparathyroidi...	OMIM:611174
Osteogenesis Imperfecta, Type Xi	Protrusio acetabuli, Kyphoscoliosis, Coxa vara, Vertebral wedging, Scoliosis, Biconcave vertebral...	OMIM:610968
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Dental enamel pits	OMIM:619787
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Carious teeth, Hip dislocation,...	OMIM:203550
Cleidocranial Dysplasia 2	Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Hypoplasia of the m...	OMIM:620099
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Hypoplasia of penis, Micrognathia, Abnormality of the dentition, Cryptorchidism, T...	ORPHA:85321
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal pel...	ORPHA:1133
Momo Syndrome	Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Femoral bo...	ORPHA:2563
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Cohen Syndrome	Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Decreased response to growth hormone ...	OMIM:216550
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Tapered finger, Wide mouth, High palate, Scoliosis, L...	OMIM:618825
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl...	OMIM:113300
Craniosynostosis 2	Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Metopic synostosi...	OMIM:604757
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ...	OMIM:612310
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal femur...	ORPHA:2063
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic...	ORPHA:93324
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Kyphosis, Tibial bowing, Slender long ...	OMIM:259420
Char Syndrome	Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per...	ORPHA:46627
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Multiple exostoses, Downturned corners of mouth, Short philtrum,...	OMIM:601224
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Dental malocclusion, 2-3 finger syndactyly, Facial palsy secon...	OMIM:269500
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty...	OMIM:259600
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Short thumb, Submucous cleft hard palate...	ORPHA:2712
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Micrognathia, Precocious puberty, Delayed eruption of permanent teet...	OMIM:619356
Grant Syndrome	Joint dislocation, Bowing of the long bones, Micrognathia, Open bite, Large fontanelles, Abnormal...	ORPHA:2097
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate	ORPHA:3019
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Micrognathia, Dental malocclusion, Downturned corn...	OMIM:269880
Eem Syndrome	Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely sp...	ORPHA:1897
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Short neck, High palate, Premature loss of teeth, Dislocate...	OMIM:102500
Carpenter Syndrome 1	External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Hyp...	OMIM:201000
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Cl...	OMIM:615560
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Micrognathia, Hyperlordosis, High, narrow palate, Submucous cleft hard...	ORPHA:2780
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormal join...	ORPHA:3130
Myopathy, Centronuclear, X-Linked	Arachnodactyly, Cryptorchidism, Dental malocclusion, Slender toe, High palate	OMIM:310400
48,Xxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Clinodactyly of the 5th fi...	ORPHA:96263
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Thin upper lip vermilion, External genital hypoplasia, Micrognathia, Deep philtrum, Dental malocc...	ORPHA:329178
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Short phalanx of...	OMIM:249420
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Micrognathia, Short tubular bones of the hand, Wide anterior fontanel, ...	ORPHA:85184
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Cryptorchidism, Downturned corners of mouth, Wide mouth, Everted lower ...	OMIM:618067
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Short neck, Downturned corners of mouth, Clitoral hypoplasia, Micropenis, Short pha...	OMIM:616894
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Brachydactyly, Thoracic scoliosis, Hypospadias, Selective tooth agenesi...	ORPHA:2959
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Micrognathia, Abnormality of the humerus, Wide anterior f...	ORPHA:3098
Lowry-Maclean Syndrome	Hypospadias, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, na...	ORPHA:2409
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Kyphoscoliosis, Macroglossia, Camptodactyly, High pal...	OMIM:616354
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Hypospadias, Short neck, Metatarsus adductus, Cr...	OMIM:123450
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Genu recurvatum, Cryptorchidism, Kyphosis, Narrow palate, Micropenis, Shor...	ORPHA:364028
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Acrocraniofacial Dysostosis	Craniosynostosis, Micrognathia, Tapered finger, Coxa valga, Cleft palate, Genu valgum, Ulnar devi...	ORPHA:949
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Flared metaphysis, Delayed eruption of permanent te...	OMIM:218400
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Taurodontism	Taurodontia	OMIM:272700
Orofaciodigital Syndrome Type 2	Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham...	ORPHA:2751
Spondyloenchondrodysplasia	Delayed eruption of teeth, Enchondroma, Metaphyseal dysplasia, Decreased response to growth hormo...	ORPHA:1855
Cole-Carpenter Syndrome 1	Wormian bones, Micrognathia, Vertebral compression fracture, Scoliosis, Microdontia, Coronal cran...	OMIM:112240
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Mandibular prognathia, Prominent metopic ridge, Kyphosis, Cleft palate, Short philtrum, Scoliosis	ORPHA:85317
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Kyphosis, Hypogonadism, Cubitus valgus, Abnormality of the ovary	ORPHA:1875
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Median cleft lip, Short neck, Short middle phalanx of the 2nd finger, Hi...	OMIM:617926
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Abnormal dental enamel morphology, Craniosynostosis, Abnormalit...	ORPHA:1515
Robinow Syndrome	Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Hemivertebrae, Orofaci...	ORPHA:97360
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Scoliosis, High palate, Craniosynostosis, Persistence of primary teeth	OMIM:147060
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp...	ORPHA:2916
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Enlargement of the ankles, Bulging epiphyses, Bowing of the legs, Cari...	OMIM:277440
49,Xxxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Clinodactyly of the 5th fi...	ORPHA:96264
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S...	OMIM:119600
Schwartz-Jampel Syndrome	Micrognathia, Short neck, Coxa vara, High palate, Wrist flexion contracture, Pursed lips, Abnorma...	ORPHA:800
Trisomy 9P	Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Impacted tooth, Down...	ORPHA:236
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Clinodactyl...	OMIM:616580
Cole-Carpenter Syndrome 2	Microretrognathia, Wide cranial sutures, Kyphosis, Platyspondyly, High palate, Lambdoidal cranios...	OMIM:616294
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Delayed closu...	OMIM:130060
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Syndactyly, Down-sloping shoulders, Metatarsus adductus, Trismus, Deep philtrum...	OMIM:227330
Faciocardiomelic Syndrome	Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusion, Wide mouth, Slender long bone,...	OMIM:612731
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu recurvatum, Arachnodactyly, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Wide ...	OMIM:182212
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Delayed closure of the anterior fontanelle, ...	OMIM:607812
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia	OMIM:129550
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up...	OMIM:225500
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ...	OMIM:618342
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Broad hallux, Hypospadias, Micrognathia, Short neck, Wide anterior fonta...	OMIM:614541
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli...	OMIM:300373
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Carious teeth, Coxa ...	OMIM:214150
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,...	ORPHA:314473
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala...	ORPHA:420561
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Micrognathia, Hyperlordosis, High, narrow palate, Supernum...	OMIM:234100
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Epispadias, Conical incisor, Microdontia, Synostosis of carpal b...	ORPHA:289
Noonan Syndrome 4	Short neck, Cryptorchidism, Dental malocclusion, Wide mouth, Thick vermilion border, Scoliosis, C...	OMIM:610733
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Prominent metopic ridge, Smooth philtrum, Long philtrum	ORPHA:46
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enlargement of the ankles, Bulging epiphyses, Bowing of the legs, Subp...	OMIM:264700
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Large knee, De...	OMIM:619269
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered fing...	OMIM:616737
Elsahy-Waters Syndrome	Mandibular prognathia, Bifid scrotum, Hypoplasia of the maxilla, Bilateral cryptorchidism, Cutane...	OMIM:211380
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Brachydactyly, Sandal gap, Cryptorchidism, Thick lower lip vermilion, ...	OMIM:614607
Silver-Russell Syndrome 1	Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Craniopharyngioma...	OMIM:180860
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Micrognathia, Hypoplasia of the ...	OMIM:209885
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Short palm, Hypoplastic iliac wing, Cryptorchidism, Small hand, Gingiv...	OMIM:235510
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosis, Micrognathia, ...	OMIM:145420
Cerebellar-Facial-Dental Syndrome	Micrognathia, Tapered finger, Cryptorchidism, Short neck, Dental malocclusion, Alveolar ridge ove...	ORPHA:444072
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Kyph...	OMIM:231070
Fgfr2-Related Bent Bone Dysplasia	Natal tooth, Clitoral hypertrophy, Hypoplastic ischia, Micrognathia, Bowing of the legs, Gingival...	ORPHA:313855
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Carious t...	ORPHA:377
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal widening, Coxa vara, ...	OMIM:300232
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, Femoral bowing present at birt...	OMIM:166220
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Short neck, Abnormal soft palate morphology,...	ORPHA:884
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Arachnodactyly, Kyphoscoliosis, Wide distal femoral metaphysis, Dentinogenesis...	OMIM:614856
Kabuki Syndrome 2	Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Hip dislocation, Cleft palate, Hig...	OMIM:300867
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Hypoplasia of...	ORPHA:88630
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Hypoparathyroidism, Abnormal dental enamel morphology	ORPHA:2238
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Short neck, Wide distal femoral metaphysis, Deep philtrum, Delayed epiphys...	OMIM:613320
Cofs Syndrome	Prominent metopic ridge, Camptodactyly of finger, Micrognathia, Short neck, Hypogonadism, Everted...	ORPHA:1466
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of th...	ORPHA:582
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Prominent metopic ridge, Hallux valgus, Dental ...	OMIM:614188
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu...	ORPHA:562
Coffin-Siris Syndrome 6	Kyphoscoliosis, Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, W...	OMIM:617808
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Wide cranial sutures, Dental crowding, Limited elbow movement, Micrognathia, D...	OMIM:614008
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short neck, Short toe, Short metatarsal, Pseudohypop...	OMIM:103580
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Dental malocc...	OMIM:618975
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Clitoral hy...	OMIM:268310
Coffin-Siris Syndrome 3	Short distal phalanx of the 5th finger, Cleft palate, Wide mouth, Macroglossia, Delayed eruption ...	OMIM:614608
Martin-Probst Syndrome	Bifid scrotum, Micrognathia, Cryptorchidism, Thick lower lip vermilion, Dental malocclusion, Wide...	OMIM:300519
Osteogenesis Imperfecta, Type Viii	Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontanel, Kyphosis, Tibial b...	OMIM:610915
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Kbg Syndrome	Thin upper lip vermilion, Persistent open anterior fontanelle, Vertebral fusion, Macrodontia, Sho...	ORPHA:2332
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Large posterior fontanelle, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal...	ORPHA:85199
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Hyperlordosis, Foot acroosteolysis, Abnormality of the a...	ORPHA:970
Multiple Pterygium-Malignant Hyperthermia Syndrome	Small scrotum, Downturned corners of mouth, Capillary hemangioma, Advanced eruption of teeth, Pro...	ORPHA:2215
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Abnormal external genitalia, Delayed closure of the anterior fontanelle, High pa...	ORPHA:231140
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Carious teeth, ...	ORPHA:2769
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Abnormality of the dentition, Micrognathia, Femoral bowing, Biconcave v...	OMIM:617952
Osteoglophonic Dysplasia	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Oslam Syndrome	Carious teeth, Radioulnar synostosis, Clinodactyly of the 5th finger, Osteosarcoma	ORPHA:2760
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Precocious puberty, Long penis, High palate, Advanced eruption of teeth, C...	OMIM:262190
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate...	OMIM:228520
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
4H Leukodystrophy	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Decreased response to growth hormone st...	ORPHA:289494
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Short neck, Short metatarsal, Pseudohypoparathyroidi...	OMIM:612462
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Bifid uvula, Exa...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Bifid uvula, Exa...	ORPHA:352665
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, High palate, Widely spaced teeth,...	OMIM:303600
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High palate, Widely spaced teet...	ORPHA:192
Autosomal Recessive Spastic Paraplegia Type 77	Kyphoscoliosis, Bilateral cryptorchidism, Hip dysplasia, Macrodontia of permanent maxillary centr...	ORPHA:466722
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial...	ORPHA:1427
Marbach-Rustad Progeroid Syndrome	Femur fracture, Delayed eruption of primary teeth, Micrognathia, Eruption failure, Hypodontia, Sh...	OMIM:619322
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Osteogenesis Imperfecta	Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Abnormal tibia morp...	ORPHA:666
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th fi...	ORPHA:1883
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:568
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Fifth finger distal phalanx clinodactyly, Metopic suture patent to nasal root, Premature posterio...	ORPHA:3369
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abnormality of the philtrum, Aplasia/Hy...	ORPHA:1597
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Fg Syndrome 5	Diastema, Hypospadias, Metopic synostosis, Long philtrum	OMIM:300581
Holoprosencephaly 9	Hypoplasia of the premaxilla, Decreased response to growth hormone stimulation test, Cleft upper ...	OMIM:610829
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Tibial bowing, Knee dislocation, Sho...	OMIM:143095
Trigonocephaly 1	Craniosynostosis, High, narrow palate, Long penis, Lumbar hemivertebrae, Metopic synostosis, Long...	OMIM:190440
W Syndrome	Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Clinodactyly, Subm...	ORPHA:2804
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Sacral dimple, Short lingual frenulum, Hypospadias, Craniosynostosis, M...	ORPHA:96121
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma,...	ORPHA:77301
Parietal Foramina 1	Wormian bones, Cleft palate, Cleft upper lip	OMIM:168500
Müllerian Aplasia And Hyperandrogenism	Short neck, Cleft palate, Hypoplasia of the uterus, Short philtrum, Cubitus valgus, Abnormal vagi...	ORPHA:247768
Familial Adenomatous Polyposis 1	Astrocytoma, Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Medulloblastoma, Fibro...	OMIM:175100
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Clinodactyly of the 5th finger, Tapered ...	OMIM:609638
Anti-Glomerular Basement Membrane Disease	Arthritis, Persistence of primary teeth	ORPHA:375
8P Inverted Duplication/Deletion Syndrome	Micrognathia, Precocious puberty, High, narrow palate, Long fingers, Cryptorchidism, Abnormality ...	ORPHA:96092
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Carious teeth, Small hand, Short foot, Slender long b...	OMIM:244460
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Patellar hypoplasia, Squamous cell carcinoma, High palate, Microdontia, Short ...	ORPHA:221016
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	Mandibular prognathia, Hallux valgus, Swan neck-like deformities of the fingers, High, narrow pal...	OMIM:619880
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, Hypospadias, Craniosynostosis, 1-3 toe syndactyly, Preaxial h...	OMIM:175700
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Cdags Syndrome	Hypospadias, Sagittal craniosynostosis, Kyphosis, Large fontanelles, Cleft palate, Rectovaginal f...	OMIM:603116
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Hip dislocation, Oligodont...	OMIM:614381
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Angulated humerus, Bowing of the long bones, Tooth agenesis, Short long bone, ...	OMIM:616229
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact...	ORPHA:87
Silver-Russell Syndrome 2	Delayed closure of the anterior fontanelle, Micrognathia, 2-3 toe syndactyly, Downturned corners ...	OMIM:618905
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Irregular, rachitic-l...	ORPHA:289157
Cockayne Syndrome Type 2	Mandibular prognathia, Delayed eruption of primary teeth, Cryptorchidism, Kyphosis, Male hypogona...	ORPHA:90322
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypospadias, Diastema, Agenesis of molar, Supernumerary tooth, Cry...	OMIM:619718
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth, Platyspondyly, Scoliosis, Femoral bowing	OMIM:126550
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cleft lip, Cryptorchidism...	OMIM:603457
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Wormian bones, Brachydactyly, Short distal phalanx of finger	ORPHA:2787
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Micrognathia, High palate, Short ...	OMIM:619148
Rubinstein-Taybi Syndrome 1	Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, High, narrow palat...	OMIM:180849
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m...	OMIM:618371
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Abs...	OMIM:606895
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid...	ORPHA:93357
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Short humerus, Hypoplastic scapulae, Anterio...	OMIM:309350
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Open bite, Abnormality of the dentition, D...	OMIM:115150
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Hypoplastic sweat glands, Hypodontia	OMIM:601345
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Kyphoscoliosis	OMIM:617105
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co...	OMIM:180700
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion, Diaphyseal sclerosis	OMIM:259730
Hypophosphatemic Rickets, Autosomal Recessive, 2	Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Genu varum	OMIM:613312
Gardner Syndrome	Astrocytoma, Brain neoplasm, Papillary thyroid carcinoma, Prostate cancer, Hepatoblastoma, Fibros...	ORPHA:79665
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Dia...	OMIM:259710
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Micrognathia, Short neck, Hi...	ORPHA:2789
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Short palm, Small scrotum, Clitoral hypertrophy, Micr...	ORPHA:85201
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Micrognathia, Hyperlordosis, Dental malocclusion, Hypoplastic sweat glands, Localized hypoplasia ...	ORPHA:73223
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Phelan-Mcdermid Syndrome	Sacral dimple, Micrognathia, Dental malocclusion, 2-3 toe syndactyly, High palate, Widely spaced ...	OMIM:606232
Localized Scleroderma	Abnormality of the dentition, Dental malocclusion, Abnormal facial skeleton morphology, Abnormal ...	ORPHA:90289
Rothmund-Thomson Syndrome Type 1	Patellar hypoplasia, Squamous cell carcinoma, Microdontia, Short phalanx of finger, Genu varum, S...	ORPHA:221008
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion, Goiter	ORPHA:83601
Silver-Russell Syndrome	Abnormality of male external genitalia, Dental crowding, Sandal gap, Hypospadias, Micrognathia, P...	ORPHA:813
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of cani...	ORPHA:364577
Osteogenesis Imperfecta, Type I	Biconcave flattened vertebrae, Femoral bowing, Hip dysplasia, Finger joint hypermobility, Wormian...	OMIM:166200
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn...	OMIM:616300
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth	OMIM:272300
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Neoplasm, High palat...	ORPHA:235
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor...	ORPHA:95717
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Craniosynostosis, Abnormality of the dentition, Lymphoma, Cleft palate...	ORPHA:2314
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Abnormal curvature of the vertebral column, Neoplasm, Abnormality of the cervica...	ORPHA:353281
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Large posterior fontanelle, Absent gallbladder, Hamartoma of tongue, Micrognathia, P...	OMIM:617925
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Micrognathia, Hypoplasia of teeth, High palate, Short clavicles, Osteolytic defe...	OMIM:608612
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Juberg-Hayward Syndrome	Toe syndactyly, Hypospadias, Short thumb, Abnormality of the elbow, Abnormal finger morphology, H...	ORPHA:2319
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Dental crowding, Abnormality of the dentition, Micrognathia, Unilateral radial aplasi...	ORPHA:476126
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Palate ...	OMIM:616788
Carpenter Syndrome 2	Short neck, Bilateral cryptorchidism, High, narrow palate, Preaxial polydactyly, Coxa vara, Knee ...	OMIM:614976
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Sagittal craniosynostosis, Micrognathia	OMIM:616901
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli, Camptodactyl...	ORPHA:284984
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, External genital hypoplasia, High, narrow palate, Epispadias, Abnormal fin...	ORPHA:2658
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Abnormal dental enamel morphology, Selective t...	ORPHA:2909
Hypophosphatasia, Adult	Arthropathy, Premature loss of permanent teeth, Premature loss of primary teeth, Carious teeth, C...	OMIM:146300
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Abnormal form of the vertebral bo...	ORPHA:2067
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Prominent metopic ridge, Arachnodactyly, Postaxial polydactyly, Tapered fi...	OMIM:619721
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Overlapping toe, Hypospadias, Proximal plac...	ORPHA:487796
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Hypospadias, Protruding tongue, Persistence of primary teeth,...	OMIM:610253
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones	ORPHA:2773
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ...	ORPHA:438216
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Arachnodactyly, Broad hallux, Cubitus valgus, Dental malocclusion, High palate, Short finger, Mal...	OMIM:601552
Spondylometaphyseal Dysplasia, Pagnamenta Type	Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Short 4th metacarpal, Broad thum...	OMIM:619638
Camurati-Engelmann Disease	Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal mor...	ORPHA:1328
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal interphalange...	OMIM:300166
Craniosynostosis 4	Ectopic posterior pituitary, Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosi...	OMIM:600775
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Larsen Syndrome	Finger syndactyly, Brachydactyly, Craniosynostosis, Large joint dislocations, Cryptorchidism, Acc...	ORPHA:503
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Flexion contracture of finger, Brachydactyly, Micrognathia, Hypoplasia...	OMIM:601812
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Kyphoscoliosis, Mic...	OMIM:268400
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Sacral dimple, Congenital hip dislocation, Dental crowding,...	ORPHA:96170
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Thin upper lip vermilion, Hip contracture, Hypospadias, Hypoplastic ischia, Micrognathia, Kyphosc...	OMIM:210730
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Oligodontia, Clitoral hypoplas...	OMIM:305600
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Toe syndactyly, Delayed eruption of primary te...	ORPHA:819
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Craniosynostosis, Hyperlordosi...	ORPHA:794
Osteogenesis Imperfecta, Type Vii	Wide cranial sutures, Crumpled long bones, Protrusio acetabuli, Femoral retroversion, Bowing of t...	OMIM:610682
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Ky...	OMIM:253200
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Fractured radius, Hypospadias, Decreased fibular diameter, Micrognathia, Short neck,...	OMIM:616897
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Delayed eruption of primary teeth, Carious teeth, Cryptor...	OMIM:216400
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Clinodactyly, H...	OMIM:615866
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab...	ORPHA:261529
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, High palate, Hypoplastic iliac wing, Abnormal vertebral mor...	ORPHA:93315
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Delayed cranial suture closure, Micrognathia	ORPHA:1129
Ramon Syndrome	Delayed eruption of teeth, Enlarged labia minora, Kyphosis, Gingival fibromatosis, Narrow palate,...	OMIM:266270
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Steatocystoma multiplex, Angular cheilitis	OMIM:167210
Cowden Syndrome 6	Subcutaneous lipoma, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Fibroadenoma of the breas...	OMIM:615109
Pachyonychia Congenita	Natal tooth, Angular cheilitis, Steatocystoma multiplex, Advanced eruption of teeth, Oral leukopl...	ORPHA:2309
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular fe...	OMIM:613805
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, High palate, Scoliosis, Persistence of primary teeth	OMIM:619752
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Narrow mouth, Cleft palate, Femoral bo...	ORPHA:83
Gonadoblastoma	Gonadal calcification, Dysgerminoma, Gonadal dysgenesis with female appearance, male, Ambiguous g...	ORPHA:206484
Cowden Syndrome 5	Subcutaneous lipoma, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Breast carcinoma, Furrowe...	OMIM:615108
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Prominent metopic ridge, Exaggerated cupid's bow, Cryptorchidism, High palate, Scoliosis, Clinoda...	OMIM:620316
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Long ...	ORPHA:521445
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypogonadotropic hypogonadism, Hypodontia	ORPHA:447896
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Aplastic clavicle, Protruding tongue, Mi...	ORPHA:50945
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Small anterior fontanelle, Ankle flexion contracture, Micrognathia	OMIM:617802
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Shor...	ORPHA:2457
Burkitt Lymphoma	Abnormality of the ovary, Neoplasm of the oral cavity	ORPHA:543
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Abnormality of the dentition, Abnorm...	ORPHA:2315
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Micrognathia, Hypogonadism, Clinodactyly of the 5th finger, Clinodactyly	ORPHA:73272
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Elbow dislocation, Metatarsus adductus, Hypoplasia ...	ORPHA:2249
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Hypoplastic sweat glands, Short philtrum, Cleft palate	OMIM:617337
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Kyphoscoliosis, Narrow palate, Agenesis of per...	OMIM:618644
Ovarian Dysgenesis 3	Primary amenorrhea, Female infertility	OMIM:614324
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi...	ORPHA:2919
Emanuel Syndrome	Broad jaw, Sacral dimple, Congenital hip dislocation, Dental crowding, Delayed eruption of primar...	OMIM:609029
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Persistence of pri...	ORPHA:93325
Trichothiodystrophy 3, Photosensitive	Natal tooth, Carious teeth, Bilateral cryptorchidism, Neoplasm of the skin, Eclabion	OMIM:616395
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor, Aplasia of the eccrine sweat glands	OMIM:300291
Fraser Syndrome	Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Dental crowding, Small scrotum, Hypospadi...	ORPHA:2052
Immunodeficiency 49	Wormian bones, Natal tooth, Short philtrum, Micrognathia	OMIM:617237
Diabetes Mellitus, Permanent Neonatal, 2	Downturned corners of mouth, Prominent metopic ridge	OMIM:618856
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Hyperlordosis, Metaphyseal widening, Delayed epiphyseal ossificat...	ORPHA:93352
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Craniosynostosis, Abnormal sacroiliac joint morphology, Enlargement of...	ORPHA:289176
Doors Syndrome	Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturne...	ORPHA:79500
Endocrine-Cerebroosteodysplasia	Small scrotum, Micrognathia, Preaxial polydactyly, Tibial bowing, Sex reversal, Microphallus, Thi...	OMIM:612651
Peters-Plus Syndrome	Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, M...	OMIM:261540
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Hypospadias, Kyphoscoliosis, Micrognathia, Short neck, High, na...	OMIM:163950
Cutis Laxa, Autosomal Recessive, Type Iiia	Wide cranial sutures, Congenital hip dislocation, Cryptorchidism, Large fontanelles, Hip dislocat...	OMIM:219150
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Medulloblastoma, Bowin...	ORPHA:199276
Bruck Syndrome	Bowing of the long bones, Kyphosis, Platyspondyly, Scoliosis, Wormian bones, Pterygium	ORPHA:2771
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Supernumerary ni...	ORPHA:1071
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl...	OMIM:601356
Cockayne Syndrome B	Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Kyphosis...	OMIM:133540
Gomez-Lopez-Hernandez Syndrome	Decreased response to growth hormone stimulation test, Craniosynostosis, Wide anterior fontanel, ...	OMIM:601853
Mandibuloacral Dysplasia With Type A Lipodystrophy	Dental crowding, Down-sloping shoulders, Micrognathia, Coxa valga, Elbow flexion contracture, Hyp...	OMIM:248370
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ...	OMIM:617865
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho...	OMIM:309620
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali...	ORPHA:353277
Familial Adenomatous Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Eruption failure, Papillary thy...	ORPHA:733
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, H...	OMIM:312870
2Q31.1 Microdeletion Syndrome	Micrognathia, Short neck, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, ...	ORPHA:251014
Raine Syndrome	Mandibular prognathia, Natal tooth, Bowing of the long bones, Micrognathia, Protruding tongue, Sh...	OMIM:259775
Cowden Syndrome 1	Subcutaneous lipoma, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Fibroadenoma of the breas...	OMIM:158350
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu...	ORPHA:3210
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Abnormal form of the ...	ORPHA:828
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Hemivertebrae, Micrope...	OMIM:146510
Familial Thyroid Dyshormonogenesis	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor...	ORPHA:95716
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Adrenal hyperplasia, High, narrow palate, Femoral bowing, Abnormal ovarian mo...	ORPHA:95699
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Kyphosis, Macroglossi...	ORPHA:261144
Lacrimoauriculodentodigital Syndrome 2	Duplication of thumb phalanx, Conical tooth, Carious teeth, Abnormal thumb morphology, Hypodontia...	OMIM:620192
Noonan Syndrome 13	Prominent metopic ridge, Overlapping toe, Micrognathia, Tapered finger, Metatarsus adductus, Clin...	OMIM:619087
Hunter-Macdonald Syndrome	Thin upper lip vermilion, Epiphyseal dysplasia, Hypospadias, Delayed cranial suture closure, Cubi...	OMIM:611962
Lateral Meningocele Syndrome	Vertebral fusion, Dental crowding, Micrognathia, Short neck, Cryptorchidism, Kyphosis, Cleft pala...	OMIM:130720
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Sotos Syndrome	Mandibular prognathia, High, narrow palate, Cryptorchidism, Long metacarpals, Narrow jaw, Narrow ...	OMIM:117550
Ogden Syndrome	Microretrognathia, Everted upper lip vermilion, Broad hallux, High, narrow palate, Cryptorchidism...	ORPHA:276432
Cutis Laxa, Autosomal Recessive, Type Iib	Bowing of the long bones, Congenital hip dislocation, Large fontanelles, High palate, Scoliosis, ...	OMIM:612940
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Increased density of long bones, Short neck, Tibial bowing, Hepatoblastoma, Microp...	OMIM:269150
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Congenital hip dislocation, Wormian bones, Delayed ...	OMIM:278250
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Rocker bottom foot, Short neck, Orofacial cleft, High palate, Camptodact...	OMIM:618804
Trisomy 17P	Prominent metopic ridge, Hypoplasia of penis, Micrognathia, Tapered finger, Short neck, Orofacial...	ORPHA:261290
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Natal tooth, Overlapping toe, Hypospadias, Craniosynostosis, Prominent scrotal rap...	OMIM:123790
Gapo Syndrome	Delayed closure of the anterior fontanelle, Micrognathia, High, narrow palate, Wide anterior font...	OMIM:230740
Ctcf-Related Neurodevelopmental Disorder	Thin upper lip vermilion, Prominent fingertip pads, Broad hallux phalanx, Sandal gap, Sacral dimp...	ORPHA:363611
Recon Progeroid Syndrome	Prominence of the premaxilla, Dental crowding, Arachnodactyly, Proximal placement of thumb, Delay...	OMIM:620370
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Hypophosphatasia, Infantile	Craniosynostosis, Bowing of the legs, Abnormality of the dentition, Vertebral clefting, Platyspon...	OMIM:241500
Familial Partial Lipodystrophy, Dunnigan Type	Advanced eruption of teeth, Polycystic ovaries	ORPHA:2348
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hip dys...	OMIM:616362
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ...	ORPHA:158687
Craniosynostosis 6	Delayed cranial suture closure, Craniosynostosis, Right unilambdoid synostosis, Scoliosis, Spina ...	OMIM:616602
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Sandal gap, Carious teeth, Small hand, 2-3 toe syndactyly, Short foot,...	OMIM:619229
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Tented upper lip vermilion...	ORPHA:261494
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Neoplasm of t...	ORPHA:249
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Micrognathia, Short neck, High, narrow palate, Downturned corners of...	OMIM:122470
Pitt-Hopkins Syndrome	Supernumerary nipple, Tapered finger, Short neck, Cryptorchidism, Broad fingertip, Short metatars...	ORPHA:2896
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth...	ORPHA:2108
Sifrim-Hitz-Weiss Syndrome	Ambiguous genitalia, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Flat acetabul...	OMIM:617159
Osteogenesis Imperfecta, Type Xxi	Coxa valga, Bowing of the legs, Coxa vara, Platyspondyly, Scoliosis, Wormian bones, Bowing of the...	OMIM:619131
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Cortical subperiosteal resorption of humeral metaphyses, Decreased res...	ORPHA:94089
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Micrognathia, Cryptorchidism,...	OMIM:247200
De Barsy Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle...	ORPHA:2962
Opitz Gbbb Syndrome	Bifid scrotum, Natal tooth, Prominent metopic ridge, Enlarged ovaries, Hypospadias, Craniosynosto...	ORPHA:2745
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Clitoral hypertrophy, Dental crowding, Hypospadias, Cleft upper ...	OMIM:219000
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth	OMIM:619769
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Large fontanelles, Tibial bowing, Abnormal pelvic girdle b...	OMIM:166210
Schinzel-Giedion Syndrome	Micrognathia, Short neck, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate,...	ORPHA:798
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadi...	ORPHA:79444
Chand Syndrome	Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol...	ORPHA:1401
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Isosexual precocious puberty, Metaphyseal widening, Wormian bones, Abnormal ...	ORPHA:2788
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge...	OMIM:149730
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Short neck, Kyphosis, Split hand, Thick lower lip vermilion, Macroglos...	OMIM:309900
Bruck Syndrome 2	Elbow flexion contracture, Femoral bowing, Knee flexion contracture, Platyspondyly, Wormian bones...	OMIM:609220
Loeys-Dietz Syndrome 3	Uterine prolapse, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee ost...	OMIM:613795
Joubert Syndrome 37	Prominent metopic ridge, Lumbar hyperlordosis, Postaxial polydactyly, Cryptorchidism, High palate...	OMIM:619185
Rabson-Mendenhall Syndrome	Mandibular prognathia, Enlarged ovaries, Dental crowding, Abnormality of the dentition, Precociou...	ORPHA:769
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Hyperextensibility of the finger joints, Short ...	OMIM:135500
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Facial capillary hemangioma, Shor...	ORPHA:818
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Bilateral cryptorchidism, Distal widening of metacarpals...	OMIM:602535
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Narrow joint spaces of the elbow, Syndactyly, Dental crowding, Decreased response to growth hormo...	ORPHA:96182
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi...	ORPHA:534
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Tapered finger, Precocious puberty, Abnormality of the dentition, Thick lower lip ve...	ORPHA:261652
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Sacral dimple, Hypospadias, Micrognathia, Carious teeth, C...	OMIM:223370
3Mc Syndrome 2	Prominence of the premaxilla, Hypospadias, Limited elbow movement, Cleft upper lip, Craniosynosto...	OMIM:265050
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Short-Rib Thoracic Dysplasia 12	Natal tooth, Brachydactyly, Median cleft lip, Hypoplastic scapulae, Hamartoma of tongue, Bowing o...	OMIM:269860
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth, Breast aplasia, Hypoplastic nipples, Shawl scrotum	ORPHA:1231
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Acute myeloid leukemia, Hypopituitarism, Sinusitis, Decreased response...	ORPHA:811
Bardet-Biedl Syndrome 1	Decreased testicular size, Syndactyly, Dental crowding, Postaxial polydactyly, High, narrow palat...	OMIM:209900
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:304120
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Tented upper lip vermilion, Overlapping toe, Thick vermilion border, High palate, Scoliosis, Long...	OMIM:619383
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Coffin-Siris Syndrome 11	Prominent metopic ridge, Cleft soft palate, Small hand, Downturned corners of mouth, Wide mouth, ...	OMIM:618779
Hennekam Syndrome	Delayed eruption of teeth, Benign neoplasm of the central nervous system, Finger syndactyly, Abno...	ORPHA:2136
Ovarian Fibrothecoma	Diffuse leiomyomatosis, Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, ...	ORPHA:314478
Tenorio Syndrome	Mandibular prognathia, Wide mouth, Macroglossia, Recurrent aphthous stomatitis, Scoliosis, Delaye...	OMIM:616260
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ...	ORPHA:464
Williams Syndrome	Hypoplasia of penis, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation ...	ORPHA:904
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Short neck, Downturned corners of mouth, Periodontitis, Par...	ORPHA:955
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, Cl...	ORPHA:2250
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Bifid scrotum, Finger syndactyly, Broad hallux phalanx, Abnormal penis morphology, Hypospadias, S...	ORPHA:2211
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Premature thelarche, Sclerotic cranial sutures, Osteolysis involving bones of the up...	ORPHA:371428
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Irregular menstruation, High palate, Amenorrhea	OMIM:110100
Cockayne Syndrome	Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Kyp...	ORPHA:191
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Micrognathia, ...	OMIM:300990
Fg Syndrome Type 1	Limited elbow extension and supination, Finger syndactyly, Broad toe, Dental crowding, Hypospadia...	ORPHA:93932
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Duplication of thumb phalanx, Micrognathia, Short neck, Large fontanelle...	ORPHA:2995
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Frontal open bite, Micrognathia, Delayed closure of the anterior fontanelle, Wide anterior fontan...	OMIM:225410
Cockayne Syndrome Type 1	Mandibular prognathia, Delayed eruption of primary teeth, Abnormality of the dentition, Cryptorch...	ORPHA:90321
Diamond-Blackfan Anemia 1	Myelodysplasia, Cleft upper lip, Micrognathia, Short thumb, Absent thumb, Hypoplastic ilia, Parti...	OMIM:105650
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,...	OMIM:617821
Opitz-Kaveggia Syndrome	Dental crowding, Micrognathia, Short neck, Prominent fingertip pads, Syndactyly, Lumbar hyperlord...	OMIM:305450
Occipital Horn Syndrome	High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the w...	ORPHA:198
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon...	OMIM:615873
Monosomy 22Q13.3	Sacral dimple, Dental crowding, Dental malocclusion, Clinodactyly of the 5th finger, Malar flatte...	ORPHA:48652
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormality of the dentition, Large fontanelles, High palate, Osteolytic defects of the distal ph...	ORPHA:90153
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxi...	OMIM:182250
Hypoplasminogenemia	Cervicitis, Gingival overgrowth, Gingivitis, Periodontitis, Abnormal fallopian tube morphology, A...	ORPHA:722
1Q44 Microdeletion Syndrome	Prominent metopic ridge, Exaggerated cupid's bow, Micrognathia, Thin vermilion border, High palat...	ORPHA:238769
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Short neck, Cleft palate, Hypoplastic cervical vertebrae, Do...	OMIM:616364
Curry-Jones Syndrome	Duplication of thumb phalanx, Lip pit, Unicoronal synostosis, Preaxial hand polydactyly, 2-3 fing...	OMIM:601707
20Q11.2 Microduplication Syndrome	Bifid scrotum, Prominent metopic ridge, Tented upper lip vermilion, Sacral dimple, Cryptorchidism...	ORPHA:363659
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Thin upper lip vermilion, Toe syndactyly, Limited elbow movement, Micrognathia, Delayed closure o...	OMIM:610759
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Brachydactyly, Sandal gap, De...	OMIM:616268
Incontinentia Pigmenti	Delayed eruption of teeth, Supernumerary nipple, Conical tooth, Kyphoscoliosis, Hemivertebrae, Ol...	OMIM:308300
9P13 Microdeletion Syndrome	Microretrognathia, External genital hypoplasia, Precocious puberty, High palate, Metopic synostos...	ORPHA:324313
Aica-Ribosuria Due To Atic Deficiency	Thin upper lip vermilion, Prominent metopic ridge, Fused labia minora, Wide mouth, Clitoral hyper...	OMIM:608688
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadi...	ORPHA:79443
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthropathy, Large fontanelles, Clubbing, Osteolytic defects of the phalanges of the hand, Arthri...	OMIM:259100
Pallister-Hall Syndrome	Small scrotum, Gonadotropin deficiency, Hemivertebrae, Micropenis, Bifid uvula, Aplasia/hypoplasi...	ORPHA:672
Aymé-Gripp Syndrome	Thin upper lip vermilion, Prominent metopic ridge, Rocker bottom foot, Craniosynostosis, Tapered ...	ORPHA:1272
Autosomal Recessive Cutis Laxa Type 2A	Persistent open anterior fontanelle, Congenital hip dislocation, Wide anterior fontanel, Long phi...	ORPHA:357058
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Micrognathia, High, narrow palate, Abnormal finger m...	ORPHA:3472
Wrinkly Skin Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle...	ORPHA:2834
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Myelodysplasia, Gingival overgrowth, ...	ORPHA:508542
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, External genital hypoplasia, Micrognathia, Hyp...	ORPHA:96334
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Short neck, Deep philtrum, High palate, Open mou...	ORPHA:1675
Floating-Harbor Syndrome	Enlarged joints, Short neck, Hypoplasia of the maxilla, Oligodontia, Humeral pseudarthrosis, Shor...	ORPHA:2044
Trisomy 10P	Thumb contracture, Wide cranial sutures, Absent gallbladder, Micrognathia, Short toe, Hemivertebr...	ORPHA:171929
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Tapered finger, Alveolar ridge overgrowth, Gingival overgrowth, Widely...	OMIM:301072
Sweeney-Cox Syndrome	2-4 finger syndactyly, Prominent metopic ridge, 2-5 finger cutaneous syndactyly, Micrognathia, Bi...	OMIM:617746
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Anterior pituitary hypoplasia, Reduced circulating prolactin concentration, Macroglossia, Malar f...	OMIM:613038
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Clitoral hypertrophy, Congenital hip dislocation, Sma...	OMIM:606170
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Female pseudohermaphroditism, Cryptorchidism, Short toe, Orofacial cleft, Thin...	ORPHA:1519
Ayme-Gripp Syndrome	Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Brachydactyly, Delayed cranial ...	OMIM:601088
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Cryptorchidism, Thick lower lip...	ORPHA:1465
Six2-Related Frontonasal Dysplasia	Absent/hypoplastic paranasal sinuses, Wide anterior fontanel, Premature posterior fontanelle clos...	ORPHA:488437
Coffin-Siris Syndrome 1	Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Prominent fingertip...	OMIM:135900
Meckel Syndrome, Type 1	External genital hypoplasia, Micrognathia, Short neck, Ambiguous genitalia, female, Lobulated ton...	OMIM:249000
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l...	ORPHA:369950
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Cleft lip, Acute lymphoblast...	OMIM:280000
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners of ...	OMIM:136140
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Facial capillary hemangioma, Oligodontia, Aplasia of th...	OMIM:608670
Alg9-Cdg	Microretrognathia, Thin upper lip vermilion, Prominent metopic ridge, Delayed cranial suture clos...	ORPHA:79328
Bloom Syndrome	Syndactyly, Cryptorchidism, Lymphoma, Agenesis of maxillary lateral incisor, Squamous cell carcin...	OMIM:210900
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Super...	OMIM:615948
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Micrognathia, Osteolytic defects of the phalanges of the hand, Polycystic ovaries, Advanced erupt...	ORPHA:280365
Hennekam-Beemer Syndrome	Camptodactyly of finger, Micrognathia, Thick lower lip vermilion, High palate, Scoliosis, Clinoda...	ORPHA:2135
Tarp Syndrome	Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Cryptorchidism, Pierr...	ORPHA:2886
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Short neck, Downturned corners of mouth, Hypoplasia of the thymus, Genu varum, Long...	OMIM:264090
Primary Ciliary Dyskinesia	Male infertility, Chronic sinusitis, Abnormal sperm motility, Female infertility	ORPHA:244
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Pituitary hypothyro...	ORPHA:90674
Restrictive Dermopathy 1	Natal tooth, Hypospadias, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Wide anterior fontane...	OMIM:275210
Adnp Syndrome	Thin upper lip vermilion, Broad hallux, Sandal gap, Abnormal toe morphology, Cryptorchidism, Thic...	ORPHA:404448
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Craniosynostosis, Premature loss of primary ...	ORPHA:667
Lead Poisoning	Delayed eruption of teeth, Abnormal sperm morphology, Oligozoospermia	ORPHA:330015
Cornelia De Lange Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Short neck, Downturned corners of...	ORPHA:199
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Decreased...	ORPHA:226307
Lathosterolosis	Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Hypoplasia of penis,...	ORPHA:46059
Trisomy 8P	Short fourth metatarsal, Short neck, Aplasia/Hypoplasia of the gallbladder, Clinodactyly of the 5...	ORPHA:264450
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Anterior pituitary hypoplasia, Micrognathia, Wide...	OMIM:619841
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Smooth philtrum, Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, 2-3 toe s...	OMIM:618653
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Delayed eruption of primary teeth	OMIM:300952
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Micrognathia, Short neck, Short metatarsal, Widely spaced teeth, High palate, Microdontia, Clinod...	OMIM:266920
D-Bifunctional Protein Deficiency	Micrognathia, Split hand, Large fontanelles, Hammertoe, High palate, Bile duct proliferation, Lon...	OMIM:261515
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Wormian bones	OMIM:259410
Williams-Beuren Syndrome	Hallux valgus, Down-sloping shoulders, Kyphoscoliosis, Thick lower lip vermilion, Dental malocclu...	OMIM:194050
Charge Syndrome	Delayed eruption of teeth, Bifid scrotum, Hypogonadotropic hypogonadism, Cleft upper lip, Abnorma...	ORPHA:138
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Absent nipple, Broad hallux, Aplasia of th...	OMIM:620186
Aspartylglucosaminuria	Mandibular prognathia, Abnormal morphology of ulna, Abnormality of the dentition, Carious teeth, ...	ORPHA:93
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Clubbing, Oral melanotic macule, Breast carcinoma, Hamartomatous polypo...	OMIM:175200
Aplasia Of Lacrimal And Salivary Glands	Carious teeth, Lacrimal gland hypoplasia, Lacrimal gland aplasia	OMIM:180920
Cutis Laxa, Autosomal Dominant 3	Os odontoideum, Hip dislocation, Wormian bones, Delayed cranial suture closure, Adducted thumb	OMIM:616603
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Long toe, Micrognathia, Long fingers, Cryptorchidism, Upper limb undergrow...	OMIM:614527
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou...	ORPHA:454840
Turner Syndrome Due To Structural X Chromosome Anomalies	Micrognathia, Short neck, High, narrow palate, High palate, Short 5th metacarpal, Hypermobility o...	ORPHA:99413
Mosaic Monosomy X	Micrognathia, Short neck, High, narrow palate, High palate, Short 5th metacarpal, Hypermobility o...	ORPHA:99228
Monosomy X	Micrognathia, Short neck, High, narrow palate, High palate, Short 5th metacarpal, Hypermobility o...	ORPHA:99226
Turner Syndrome	Micrognathia, Short neck, High, narrow palate, High palate, Short 5th metacarpal, Hypermobility o...	ORPHA:881
Menkes Disease	Wormian bones, Metaphyseal widening, Metaphyseal spurs	OMIM:309400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Hip dysplasia, Aplasia of the vagin...	ORPHA:457284
Dend Syndrome	Downturned corners of mouth, Prominent metopic ridge, Clinodactyly of the 4th finger, Long philtrum	ORPHA:79134
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Breast aplasia, Abnormality of the dentition	ORPHA:2036
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Delayed cranial suture closure, Craniosynostosis, Micrognathia, Tapered finger, Cryptorchidism, S...	OMIM:620005
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Wide penis, Downturned corners of mouth, H...	ORPHA:3455
Hyperparathyroidism, Transient Neonatal	Wide cranial sutures, Short femur, Hyperparathyroidism, Metaphyseal spurs, Femoral bowing, Ovaria...	OMIM:618188
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Hutchinson-Gilford Progeria Syndrome	Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, High palate, Limitation of...	ORPHA:740
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Internally rotat...	OMIM:619503
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar...	OMIM:216340
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Hypospadias, Decreased response to growth hormone stimulation test, Mic...	ORPHA:444077
Osteopetrosis With Renal Tubular Acidosis	Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Thick lower lip vermili...	ORPHA:2785
Ogden Syndrome	Large posterior fontanelle, Congenital hip dislocation, Micrognathia, Short neck, Deep philtrum, ...	OMIM:300855
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Micrognathia, Decreased fibular diameter, Intra-oral hyperpigmentation, Osteolytic de...	OMIM:619127
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Carious teeth, Oral ulcer, Gingivitis, Gout, Polycystic ovaries, Delayed eruption of permanent te...	ORPHA:79259
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Wormian bones, Abnormality of the dentition, Elbow dislocation, Abnormality of...	ORPHA:285
Menkes Disease	Bowing of the long bones, Tarsal synostosis, Micrognathia, Wormian bones, Chondrocalcinosis, Abno...	ORPHA:565
6Q Terminal Deletion Syndrome	Hallux valgus, Prominent metopic ridge, Hypospadias, Micrognathia, Phimosis, High, narrow palate,...	ORPHA:75857
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov...	ORPHA:1359
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Thin upper lip vermilion, Joint dislocation, Arachnodactyly, Cryptorchidism, A...	OMIM:601776
Restrictive Dermopathy	Natal tooth, Thoracic kyphoscoliosis, Hypospadias, Camptodactyly of finger, Micrognathia, Aplasia...	ORPHA:1662
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth	OMIM:617799
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Sotos Syndrome	Astrocytoma, No permanent dentition, Neoplasm, Abnormal vertebral morphology, Hypospadias, Crypto...	ORPHA:821
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries	ORPHA:2795
Medulloblastoma	Back pain, Medulloblastoma, Spinal cord tumor, Neoplasm of the lung, Neuroblastoma, Delayed crani...	ORPHA:616
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Bifid scrotum, Dental crowding, Cleft hard palate, Calcaneovalgus deformit...	ORPHA:261537
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Small scrotum, Micrognathia, Short neck, ...	OMIM:601803
Periventricular Nodular Heterotopia 9	Prominent metopic ridge, Everted upper lip vermilion, Hypoplastic philtrum, Tapered finger, Gingi...	OMIM:618918
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hemivertebrae, Femoral bowing, Micropenis, Arac...	OMIM:201750
Microphthalmia, Syndromic 1	Syndactyly, Lumbar hyperlordosis, Dental crowding, Down-sloping shoulders, Hypospadias, Cleft upp...	OMIM:309800
Coffin-Siris Syndrome 12	Hypospadias, Micrognathia, Short thumb, Velopharyngeal insufficiency, Submucous cleft hard palate...	OMIM:619325
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Narrow mouth, Cryptorchidism, Kyphosis...	ORPHA:1606
Mowat-Wilson Syndrome	Mandibular prognathia, Bifid scrotum, Dental crowding, Cleft hard palate, Calcaneovalgus deformit...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Bifid scrotum, Dental crowding, Cleft hard palate, Calcaneovalgus deformit...	ORPHA:261552
Beckwith-Wiedemann Syndrome	Prominent metopic ridge, Overgrowth of external genitalia, Adrenocortical carcinoma, Cryptorchidi...	OMIM:130650
Mowat-Wilson Syndrome	Delayed eruption of teeth, Bifid scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Subm...	OMIM:235730
Autosomal Dominant Cutis Laxa	Genu recurvatum, Hip dislocation, Abnormal curvature of the vertebral column, Scoliosis, Wormian ...	ORPHA:90348
Autosomal Recessive Cutis Laxa Type 1	Wide anterior fontanel, Joint subluxation, Delayed cranial suture closure, Hip dislocation	ORPHA:90349
Hemangioma, Capillary Infantile	Capillary hemangioma	OMIM:602089

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Antxr1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Antxr1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Cell autonomous ANTXR1-mediated regulation of extracellular matrix components in primary fibroblasts.	Matrix biology : journal of the International Society for Matrix Biology (December 2016)	Antxr1^{tm1(KOMP)Vlcg}	28011198
Regulatory mechanisms of anthrax toxin receptor 1-dependent vascular and connective tissue homeostasis.	Matrix biology : journal of the International Society for Matrix Biology (January 2015)	Antxr1^{tm1(KOMP)Vlcg}	PMC4409530

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Antxr1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Antxr1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Antxr1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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