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Gene: Osr2 MGI:1930813

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

odd-skipped related 2

Synonyms:

Osr2A, 5430409I15Rik, Osr2B

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 Osr2 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 Osr2 (0 diseases)
Human diseases predicted to be associated with Osr2 (778 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Osr2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Incisors, Rotation Of Upper Central	Rotated maxillary central incisors	OMIM:147350
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
22q11 duplication syndrome	Telecanthus	DECIPHER:32
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Diastema, Dental Medial	Diastema, Widely-spaced maxillary central incisors	OMIM:125900
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Oculomotor-Levator Synkinesis	Ptosis, Eyelid retraction, Abnormal eyelid morphology	OMIM:151610
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Taurodontism	Taurodontia	OMIM:272700
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Ptosis, Hereditary Congenital 1	Congenital ptosis	OMIM:178300
Marcus Gunn Phenomenon	Unilateral ptosis, Congenital ptosis	OMIM:154600
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Brachycephaly, Trichomegaly, And Developmental Delay	Epicanthus, Highly arched eyebrow, Synophrys, Supernumerary tooth, Submucous cleft hard palate, T...	OMIM:617412
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Syngnathia	Cleft palate	OMIM:119550
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the...	ORPHA:3145
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Microphthalmia, Isolated, With Coloboma 4	Coloboma, Orbital cyst	OMIM:251505
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ...	OMIM:128980
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Mandibulofacial Dysostosis-Microcephaly Syndrome	Epicanthus, Telecanthus, Accessory oral frenulum, Absent tragus, Micrognathia, Hypoplasia of the ...	ORPHA:79113
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:172880
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Zimmermann-Laband Syndrome	Telecanthus, Micrognathia, Supernumerary tooth, Sensorineural hearing impairment, Gingival fibrom...	ORPHA:3473
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Cleft palate, Non-midline cleft lip, Ankyloblepharon	ORPHA:1074
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Posteriorly rotated ears, Abnormal eyelid morphology, Micrognathia, High, narro...	ORPHA:1787
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Megaepiphyseal Dwarfism	Epicanthus, Cleft palate	OMIM:249230
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Supernumerary tooth, Abnormality of the dentition	ORPHA:1264
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Chromosome 22Q11.2 Duplication Syndrome	Epicanthus, Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, High palate, L...	OMIM:608363
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Branchiootic Syndrome	Branchial fistula, Abnormal nasolacrimal system morphology, Lip pit, Micrognathia, Sensorineural ...	ORPHA:52429
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ...	ORPHA:2521
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Ankyloblepharon, Cleft upper lip	OMIM:106250
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Blepharophimosis, Oral syn...	ORPHA:2016
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Acrootoocular Syndrome	Delayed eruption of teeth, Epicanthus, Grayish enamel, Micrognathia, High, narrow palate, Supernu...	ORPHA:2980
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Delayed skeletal maturation, Joint hyperflexibility, Hypodontia, Hip o...	ORPHA:63442
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Hyperextensibil...	OMIM:601492
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Parc Syndrome	Absent eyelashes, Absent eyebrow, Microretrognathia, Cleft palate	OMIM:600331
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef...	OMIM:616788
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No...	ORPHA:199302
Abruzzo-Erickson Syndrome	Cleft palate, Protruding ear, Coloboma, Macrotia, Hearing impairment	OMIM:302905
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Cleft palate	OMIM:600252
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Epicanthus, Micrognathia, Cleft palate	ORPHA:2015
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Uvula, Bifid	Bifid uvula	OMIM:192100
Congenital Velopharyngeal Incompetence	Velopharyngeal insufficiency, Abnormal palate morphology, Hearing impairment	ORPHA:2291
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Velopharyngeal insufficiency, Ptosis	OMIM:617732
Bencze Syndrome	Upslanted palpebral fissure, Telecanthus, Submucous cleft hard palate, Open bite	ORPHA:1241
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Abnormality of the dentition, Sparse eyebrow, Micrognathia, Supernumerary tooth...	ORPHA:77258
Trichorhinophalangeal Syndrome Type 2	Joint dislocation, Thin upper lip vermilion, Abnormality of the dentition, Avascular necrosis of ...	ORPHA:502
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Craniosynostosis 2	Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Metopic synostosi...	OMIM:604757
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Low-set ears, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Epicanthus, Abnormal dental enamel morphology, Conductive hearing impairment, Aplasia/Hypoplasia ...	ORPHA:3236
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Dental crowding, Avascular necrosis of the capital femoral ...	OMIM:190351
Auriculocondylar Syndrome 2A	Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Hearing impairmen...	OMIM:614669
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Orbital Margin, Hypoplasia Of	Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly	OMIM:165600
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali...	ORPHA:3352
Cleft Velum	Cleft soft palate, Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insuf...	ORPHA:99772
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Treacher Collins Syndrome 4	Micrognathia, Lower eyelid coloboma, Cleft palate, Conductive hearing impairment, Malar flattenin...	OMIM:618939
Intellectual Developmental Disorder, X-Linked 90	Upslanted palpebral fissure, Malar flattening, High palate, Bifid uvula	OMIM:300850
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp...	OMIM:618761
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Auriculocondylar Syndrome 3	Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ...	OMIM:615706
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
Isolated Childhood Apraxia Of Speech	High, narrow palate, Overfolded helix, Submucous cleft hard palate, Horizontal eyebrow	ORPHA:209908
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis,...	OMIM:619718
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Multiple Synostoses Syndrome 3	Limited interphalangeal movement, Humeroradial synostosis, Cleft palate, Metatarsal synostosis, C...	OMIM:612961
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa...	OMIM:619752
Facial Clefting, Oblique, 1	Coloboma, Cleft palate, Cleft upper lip	OMIM:600251
Orofaciodigital Syndrome Xix	Epicanthus, Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Cupped ...	OMIM:620107
Treacher Collins Syndrome 3	Micrognathia, Lower eyelid coloboma, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Co...	OMIM:248390
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, R...	ORPHA:1452
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Nance-Horan Syndrome	Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta, Osteoporosis	ORPHA:71267
Bor Syndrome	Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ...	ORPHA:107
Mesomelic Limb Shortening And Bowing	Retrognathia, Camptodactyly of finger, Cleft palate, Micrognathia	OMIM:249710
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti...	ORPHA:69087
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Epicanthus, Abnormality of the middle ear ossicles, Severe conductive hearing i...	ORPHA:90646
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Dental crowding, Posteriorly rotated ears, Micrognathia, High, narrow p...	OMIM:619941
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Blepharo-Cheilo-Odontic Syndrome	Abnormal eyelid morphology, Carious teeth, Conical tooth, Ectropion of lower eyelids, Bilateral c...	ORPHA:1997
Abruzzo-Erickson Syndrome	Epicanthus, Sensorineural hearing impairment, Cleft palate, Coloboma, Chorioretinal coloboma, Con...	ORPHA:921
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Cleft palate, Coloboma, Abnormal oral frenulum morphology, Sho...	ORPHA:1617
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Synophrys, Supernumerary tooth, Sensorineural hearing impairment, Ap...	ORPHA:90024
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft upper lip, Cleft palate, Chorioretinal coloboma, Iris coloboma, Hearing impairment	OMIM:120433
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Hallermann-Streiff Syndrome	Natal tooth, Sparse eyelashes, Selective tooth agenesis, Micrognathia, Sparse eyebrow, High, narr...	OMIM:234100
Arthrogryposis, Distal, Type 1C	Pursed lips, Hip contracture, Shoulder flexion contracture, Camptodactyly of finger, Cleft lip, E...	OMIM:619110
Cleidocranial Dysplasia 2	Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, Ge...	OMIM:620099
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Conductive hearing impairment, Bifid uvula	ORPHA:2669
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Absent eyebrow, Epicanthus, Mandibular prognathia, Sparse eyelashes, U...	OMIM:268400
Hypophosphatasia, Adult	Arthropathy, Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Re...	OMIM:146300
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Sparse or absent eyel...	ORPHA:3353
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Abnormality of the ankle, Carpal s...	ORPHA:2010
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Acrocraniofacial Dysostosis	Low-set, posteriorly rotated ears, Telecanthus, Abnormal pinna morphology, Abnormality of the mid...	ORPHA:949
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Posteriorly rotated ears, Highly arched eyebrow, Cleft lip, Cleft pal...	OMIM:616898
Fetal Akinesia Deformation Sequence 4	Posteriorly rotated ears, Micrognathia, High palate, Prenatal death, Low-set ears, Neonatal death...	OMIM:618393
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Cree Mental Retardation Syndrome	Posteriorly rotated ears, Cleft soft palate, Micrognathia, Coloboma, Low-set ears, Downslanted pa...	OMIM:606851
Orofaciodigital Syndrome I	Microretrognathia, Epicanthus, Telecanthus, Median cleft lip, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the middle ear ossicles, Non-midline cleft lip, Abnormality of the inner ear, Sens...	ORPHA:2549
Chime Syndrome	Epicanthus, Abnormal dental morphology, Hearing impairment, Abnormality of the dentition, Supernu...	ORPHA:3474
Weaver-Williams Syndrome	Protruding ear, Cleft palate, Narrow mouth	ORPHA:3448
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna...	OMIM:613849
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed anus, High palate,...	OMIM:211380
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Epicanthus, Dental crowding, Posteriorly rotated ears, Abnormality of ...	ORPHA:2789
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Bifid uvula, Hearing impairment	OMIM:256200
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Telecanthus, Abnormal pinna morphology, Highly arched eyebrow, Hearing ...	OMIM:614583
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ...	ORPHA:3019
Adducted Thumbs Syndrome	Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, A...	OMIM:201550
Birk-Barel Syndrome	Microretrognathia, Tented upper lip vermilion, Highly arched eyebrow, High palate, Long eyelashes...	OMIM:612292
Split-Foot Deformity With Mandibulofacial Dysostosis	Malar flattening, Abnormality of the ear, Cleft palate, Micrognathia	OMIM:183700
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Downslanted palpebral fissures, Posteriorly placed tongue, Pierre-Ro...	OMIM:192445
Autosomal Dominant Robinow Syndrome	Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligo...	ORPHA:3107
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To...	ORPHA:2863
Schilbach-Rott Syndrome	Epicanthus, Posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Upslanted palpeb...	OMIM:164220
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Dental enamel pits	OMIM:619787
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, Cleft soft palate, Abnormali...	OMIM:616331
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Arthrogryposis multiplex congenita, Non-midline cleft lip, Limitation of joint mobility, Cleft pa...	ORPHA:1484
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Epicanthus, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence,...	OMIM:620183
8Q22.1 Microdeletion Syndrome	Telecanthus, Sparse eyelashes, Underfolded helix, Highly arched eyebrow, Abnormality of the denti...	ORPHA:178303
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Median cleft lip, High palate, Iris coloboma, Downslanted palpebral fissures, Bifid uvula	OMIM:155145
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Coffin-Siris Syndrome 11	Cleft soft palate, Uplifted earlobe, Esophageal atresia, Downturned corners of mouth, Wide mouth,...	OMIM:618779
Trichodentoosseous Syndrome	Microdontia, Taurodontia, Widely spaced teeth	OMIM:190320
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Increased bone mineral density, Delayed eruption of primary ...	OMIM:119600
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Bifid uvula, Cleft palate	OMIM:258320
Atkin-Flaitz Syndrome	Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor...	ORPHA:1193
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car...	ORPHA:3238
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Cleft soft palate, Micrognathia, Lower eyelid col...	OMIM:154500
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Retrogna...	OMIM:619981
Microtia, Hearing Impairment, And Cleft Palate	Increased incisura length, Mixed hearing impairment, Cleft palate, Stenosis of the external audit...	OMIM:612290
Auriculocondylar Syndrome 1	Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Cup...	OMIM:602483
Rubinstein-Taybi Syndrome 2	Epicanthus, Posteriorly rotated ears, Intestinal malrotation, Highly arched eyebrow, Micrognathia...	OMIM:613684
Buratti-Harel Syndrome	Epicanthus, Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate, ...	OMIM:619314
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of...	OMIM:616367
Duplication Of The Pituitary Gland	Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Volvulus, Retrognathia,...	ORPHA:314621
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Absent lacrimal punctum, Sparse eyelashes, Abnormal dental enamel morp...	ORPHA:1071
Split hand/foot malformation 1 (SHFM1)	Lacrimal duct aplasia, Sensorineural hearing impairment, Median cleft lip, Cleft palate	DECIPHER:46
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Highly arched eyebrow, Abnormality of the dent...	ORPHA:2712
Coloboma Of Macula With Type B Brachydactyly	Coloboma	OMIM:120400
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Supernumerary tooth, Thin vermilion border, Thick vermilion border, Malar flattening, Downslanted...	ORPHA:86818
Congenital Arthrogryposis With Anterior Horn Cell Disease	Micrognathia, High palate, Low-set ears, Neonatal death, Retrognathia, Downslanted palpebral fiss...	OMIM:611890
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor	OMIM:302350
Microphthalmia, Isolated, With Coloboma 6	Coloboma	OMIM:613703
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce...	OMIM:601349
Pycnodysostosis	Persistent open anterior fontanelle, Increased bone mineral density, Delayed eruption of primary ...	OMIM:265800
Hennekam Syndrome	Delayed eruption of teeth, Epicanthus, Abnormal dental morphology, Abnormal oral mucosa morpholog...	ORPHA:2136
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Delayed ske...	ORPHA:884
Multiple Epiphyseal Dysplasia, Lowry Type	Micrognathia, Cleft hard palate, Delayed epiphyseal ossification, Knee flexion contracture, Genu ...	ORPHA:166016
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Downslanted palpebral fissures, Smooth philtrum	OMIM:614526
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto...	ORPHA:137888
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Sparse eyelashes, Abnormality of the philtrum, Cleft upper lip, Sparse eyebrow, Abnormality of th...	OMIM:225060
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Telecanthus, Posteriorly rotated ears, Hamartoma of tongue, Micro...	OMIM:615948
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Micrognathia, Non-midline cleft lip, Ectropion of lower eyelid...	ORPHA:246
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Zechi-Ceide Syndrome	Mandibular prognathia, Cleft lip, Abnormal earlobe morphology, Cleft palate, Downturned corners o...	ORPHA:217017
Microphthalmia, Isolated 4	Coloboma	OMIM:613094
Frontonasal Dysplasia 1	Epicanthus, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Coloboma, W...	OMIM:136760
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment	OMIM:251800
Microphthalmia, Syndromic 2	Anteverted ears, Oligodontia, Fused teeth, Laterally curved eyebrow, Bifid uvula, Iris coloboma, ...	OMIM:300166
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Joint...	ORPHA:137834
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Hearing impairment, Upper eyelid coloboma, C...	OMIM:619736
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Epicanthus, Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sparse eyebrow, Sen...	OMIM:606164
Hallermann-Streiff Syndrome	Natal tooth, Telecanthus, Sparse eyelashes, Abnormality of the dentition, Sparse eyebrow, High, n...	ORPHA:2108
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Osteopenia, Reduced bone mineral density	OMIM:619489
Schwartz-Jampel Syndrome	Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Pursed lips, Death in infancy, Mi...	ORPHA:800
Blepharonasofacial Malformation Syndrome	Epicanthus, Telecanthus, Hearing impairment, Abnormal eyelash morphology, External ear malformati...	ORPHA:1252
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Sparse eyelashes, Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, C...	OMIM:300946
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Orofaciodigital Syndrome Type 14	Low-set, posteriorly rotated ears, Microretrognathia, Telecanthus, Accessory oral frenulum, Hamar...	ORPHA:434179
Filippi Syndrome	Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors	OMIM:272440
Hemifacial Microsomia With Radial Defects	Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of the external auditory ...	OMIM:141400
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abn...	ORPHA:3201
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Micrognathia, High, narrow palate, Incisor macrodontia, Short philtru...	ORPHA:166108
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Small earlobe, Abnormality of c...	ORPHA:364577
Burn-Mckeown Syndrome	Mandibular prognathia, Cleft upper lip, Micrognathia, Conductive hearing impairment, Lower eyelid...	OMIM:608572
Robinow Syndrome, Autosomal Recessive 2	Posteriorly rotated ears, Cleft soft palate, Abnormality of the dentition, Micrognathia, Gingival...	OMIM:618529
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Wormian bones, Dental crowding, Carious teeth, Cu...	OMIM:269300
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Osteopenia, Abnormal dental enamel morphology, Selective tooth agenesi...	ORPHA:2909
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ...	OMIM:167730
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Microphthalmia, Syndromic 12	Intestinal malrotation, Micrognathia, Cleft palate, Neonatal death, Retrognathia	OMIM:615524
Neuronal Intestinal Pseudoobstruction	Natal tooth, Malabsorption	ORPHA:99811
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Stapes ankylosis, Mandibular prognathia, Dental crowding, Absent malle...	OMIM:614188
Vertebral Hypersegmentation And Orofacial Anomalies	Epicanthus, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Darwin tubercle of h...	OMIM:619122
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ...	OMIM:618342
Short Stature And Facioauriculothoracic Malformations	Cleft upper lip, Cupped ear, Cleft palate, Microtia, High palate, Low-set ears, Overfolded helix,...	OMIM:609654
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Congenital hip dislocation, Delayed skeletal maturation, Macroglossia,...	OMIM:614450
Anencephaly 2	Median cleft lip, Median cleft palate, Short palpebral fissure, Cleft maxillary alveolar ridge	OMIM:619452
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Open bite, Delayed skeletal maturation, Dental ...	ORPHA:61
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit, Ankyloblepharon	ORPHA:1072
Intellectual Developmental Disorder, Autosomal Dominant 2	Cholesteatoma	OMIM:614113
Pai Syndrome	Telecanthus, Median cleft lip, Cleft palate, Bifid uvula, Abnormal oral frenulum morphology, Down...	ORPHA:1993
Branchio-Oculo-Facial Syndrome	Low-set, posteriorly rotated ears, Upper lip pit, Abnormal pinna morphology, Conductive hearing i...	ORPHA:1297
Stickler Syndrome, Type Ii	Arthropathy, Micrognathia, High, narrow palate, Pierre-Robin sequence, Cleft palate, Malar flatte...	OMIM:604841
Distal Deletion 12Q	Telecanthus, Median cleft lip, Micrognathia, High, narrow palate, Esophageal atresia, Supernumera...	ORPHA:96149
Smith-Lemli-Opitz Syndrome	Micrognathia, Advanced eruption of teeth, Iris coloboma, Low-set, posteriorly rotated ears, Abnor...	ORPHA:818
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Smooth philtrum, Thin upper lip vermilion, Stapes ankylosis, Intestinal malrotation, Highly arche...	OMIM:614701
Branchiootorenal Syndrome 1	Branchial cyst, High palate, Conductive hearing impairment, Microdontia, Bifid uvula, Branchial f...	OMIM:113650
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, High palate, Joi...	OMIM:147060
Intellectual Disability And Myopathy Syndrome	Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ...	OMIM:619719
Laron Syndrome	Delayed eruption of teeth, Micrognathia, Osteoarthritis, Delayed skeletal maturation, Abnormality...	ORPHA:633
Mohr Syndrome	Telecanthus, Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, ...	OMIM:252100
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Lateral Meningocele Syndrome	Telecanthus, Dental crowding, Posteriorly rotated ears, Abnormality of the middle ear ossicles, M...	OMIM:130720
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Thickened helices, Promin...	ORPHA:293725
Nager Syndrome	Low-set, posteriorly rotated ears, Sparse lower eyelashes, Hearing impairment, Micrognathia, Hypo...	ORPHA:245
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion	ORPHA:181
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Aase-Smith Syndrome I	Death in infancy, Abnormal pinna morphology, Cleft palate, Open mouth, Ptosis	OMIM:147800
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Non-midline cleft lip, Aplasia/Hypoplasia of the earlobes, Cle...	ORPHA:1104
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Osteopenia, Joint laxity, Camptodactyly of finger, Dental malocclusion...	OMIM:612350
Aarskog-Scott Syndrome	Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Cleft upper lip, Hypoplasia ...	ORPHA:915
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Micrognathia, Cupped ear, Cleft palate, Narrow mouth, Malar flattening	ORPHA:93946
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D...	OMIM:619797
Second Metatarsal-Metacarpal Syndrome	Synostosis of carpals/tarsals	OMIM:269630
Mesomelia-Synostoses Syndrome	Abnormality of the knee, Micrognathia, Aplasia/Hypoplasia of the uvula, High, narrow palate, Join...	ORPHA:2496
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia	OMIM:615502
Marcus-Gunn Syndrome	Unilateral ptosis, Abnormal ear morphology, Cleft lip, Cleft palate, Coloboma	ORPHA:91412
Frontonasal Dysplasia 3	Absent eyebrow, Posteriorly rotated ears, Sparse eyelashes, Upper eyelid coloboma, Cleft palate, ...	OMIM:613456
Familial Adenomatous Polyposis 1	Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g...	OMIM:175100
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Flexion contracture, Antecubital pterygium, Cleft pa...	OMIM:618469
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide...	OMIM:300602
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Coloboma, Low-set ears	OMIM:601357
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Everted lower lip vermilion, Ectropion	OMIM:242500
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Posteriorly rotated ears, Protruding tongue, Submucous cleft hard palate, Wide m...	OMIM:618106
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Epicanthus, Posteriorly rotated ears, Micrognathia, High, narrow palat...	ORPHA:2780
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypodontia	ORPHA:1816
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
W Syndrome	Telecanthus, Submucous cleft hard palate, Agenesis of maxillary central incisor, Broad uvula, Dow...	ORPHA:2804
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow	OMIM:618506
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis,...	ORPHA:2063
Neuropathy, Congenital Hypomyelinating, 3	Epicanthus, Hearing impairment, Micrognathia, Gingival overgrowth, Narrow palate, Thick vermilion...	OMIM:618186
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth...	ORPHA:10
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, High palate, Exaggerated median...	OMIM:608670
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Almond-shaped palpebral fissure, Epiblepharon, Submucous cleft hard palate...	OMIM:619103
Coffin-Siris Syndrome 3	Joint laxity, Delayed skeletal maturation, Cleft palate, Wide mouth, Macroglossia, Delayed erupti...	OMIM:614608
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Decreased hip abduction, Camptodactyly of finger, Micrognathia, Submu...	OMIM:114300
Fetal Gaucher Disease	Low-set, posteriorly rotated ears, Death in infancy, Stillbirth, High palate, Neonatal death, Ect...	ORPHA:85212
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Camptodactyly of finger, Open bite, Delayed skeletal maturation, Abnormali...	ORPHA:1327
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis	OMIM:612463
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Lower eyelid coloboma, Cleft palate, Fusion of middle ear ossicl...	OMIM:613717
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Esophageal stricture, Hypodontia	OMIM:616029
Intellectual Developmental Disorder, Autosomal Recessive 67	Coloboma, Sensorineural hearing impairment, Posteriorly rotated ears	OMIM:618295
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Epicanthus, Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Aplasia of the epiglo...	OMIM:617088
Orofaciodigital Syndrome Type 2	Natal tooth, Telecanthus, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveola...	ORPHA:2751
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Smooth philtrum, Thin upper lip vermilion, Sparse eyelashes, Hoode...	OMIM:612863
Native American Myopathy	Micrognathia, Bilateral ptosis, Conductive hearing impairment, Cleft palate, Downturned corners o...	ORPHA:168572
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ...	ORPHA:363417
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Abnormal pinna morphology, Sensorineural hearing impairment, Optic disc coloboma, Cupped ear, Cle...	ORPHA:52055
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Delayed skeletal maturation, Thick lower lip vermilion, Cleft palate, ...	OMIM:614607
Cerebrocostomandibular Syndrome	Epicanthus, Anal stenosis, Posteriorly rotated ears, Cleft soft palate, Micrognathia, Carious tee...	OMIM:117650
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Micrognathia, Carious teeth, Flexion contracture, Osteoporosis, Elbow ...	OMIM:214150
Hydrolethalus	Low-set, posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Cleft palate, Gingi...	ORPHA:2189
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Epicanthus, Posteriorly rotated ears, Submucous cleft hard palate, Upsl...	OMIM:619680
Osteoglosphonic Dysplasia	Craniosynostosis, Micrognathia, Delayed skeletal maturation, Tooth agenesis, Multiple unerupted t...	ORPHA:2645
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Microtia, Congenital pyloric atresia	OMIM:612138
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Odontochondrodysplasia	Delayed eruption of teeth, Joint hyperflexibility, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum	OMIM:618825
Gardner Syndrome	Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo...	ORPHA:79665
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft lip, Sensorineural hearing impairment, Cleft palate	OMIM:612370
Char Syndrome	Persistence of primary teeth, No permanent dentition, Symphalangism of the 5th finger, Thick verm...	ORPHA:46627
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Conical tooth, Carious teeth, Cupped ear, Lacrimal duct atresia, Lacrima...	OMIM:620192
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, M...	OMIM:300990
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Macroglossia, Camptodactyly, High palate, Thick vermi...	OMIM:616354
Lacrimoauriculodentodigital Syndrome 3	Absent lacrimal punctum, Epicanthus, Absent eyelashes, Carious teeth, Cupped ear, Xerostomia, Lac...	OMIM:620193
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala...	ORPHA:420561
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Brachydactyly, Type B1	Vertebral fusion, Delayed eruption of permanent teeth, Camptodactyly, Joint contracture of the ha...	OMIM:113000
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Coloboma, High palate, Otitis media, Conductive hearing impairment...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Coloboma, High palate, Otitis media, Conductive hearing impairment...	ORPHA:353277
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Delayed skeletal m...	ORPHA:2107
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Supernumerary tooth, Talon c...	ORPHA:353281
Bresek Syndrome	Aganglionic megacolon, Cleft palate, Protruding ear, Low-set ears, Neonatal death, Iris coloboma,...	ORPHA:85284
Fibrodysplasia Ossificans Progressiva	Ectopic ossification in muscle tissue, Limitation of joint mobility, Ectopic ossification in liga...	ORPHA:337
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia	OMIM:605282
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W...	OMIM:618067
Limb-Mammary Syndrome	Absent lacrimal punctum, Chronic irritative conjunctivitis, Sparse eyebrow, Cleft hard palate, Cl...	ORPHA:69085
Rapp-Hodgkin Syndrome	Absent lacrimal punctum, Sparse eyelashes, Hearing impairment, Conical tooth, Sparse eyebrow, Cle...	OMIM:129400
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Accelerated skeletal maturation, Gingival o...	OMIM:614753
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ...	OMIM:259710
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Hearing impairment, Cleft palate, Hypoplasia of teeth, Microtia, Widely spaced teeth, Recurrent o...	ORPHA:2728
Agnathia-Otocephaly Complex	Micrognathia, Aglossia, Cleft palate, Low-set ears, Narrow mouth, Conductive hearing impairment, ...	OMIM:202650
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Enlarged joints, Flexion contracture, Abnormality of the elbow, Genu v...	ORPHA:263463
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Ivory epiphyses of the distal ph...	OMIM:190350
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Cleft soft palate, Pyloric stenosis, Supernumerary tooth, Protruding ear, Upslanted palpebral fis...	ORPHA:268261
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma...	ORPHA:763
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Upslanted palpebral fissure, Coloboma, Macroglossia, Wide mouth, Everted lower lip vermilion, Low...	OMIM:616789
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis, Esophageal carcinoma, Mul...	ORPHA:247806
Branchioskeletogenital Syndrome	Attached earlobe, Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed ...	ORPHA:1299
Beaulieu-Boycott-Innes Syndrome	Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Upslanted palpebr...	OMIM:613680
Oslam Syndrome	Carious teeth, Radioulnar synostosis	ORPHA:2760
Proximal Symphalangism	Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, Metacarpophalangeal synostosis, Pr...	ORPHA:3250
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Orofaciodigital Syndrome Type 10	Telecanthus, Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, Retrognathia	ORPHA:2756
Joubert Syndrome 14	Epicanthus, Tented upper lip vermilion, Posteriorly rotated ears, Highly arched eyebrow, Cleft pa...	OMIM:614424
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Abnormal pinna morphology, Absent tragus, Cleft lip, Synophrys, Lacri...	OMIM:603457
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Highly arched eyebrow, Hearing impairment, Micrognathia, Microtia, Submucous c...	ORPHA:2282
Amish Lethal Microcephaly	Cleft soft palate, Micrognathia, Limitation of joint mobility, Osteoporosis, Decreased skull ossi...	ORPHA:99742
Abcd Syndrome	White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Total...	OMIM:600501
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth	OMIM:619356
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Limb-Mammary Syndrome	Cleft palate, Hypodontia, Camptodactyly, Joint contracture of the hand, Bifid uvula	OMIM:603543
Familial Adenomatous Polyposis	Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo...	ORPHA:733
Hypomandibular Faciocranial Dysostosis	Death in infancy, Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Cleft palate, Upslanted ...	ORPHA:1790
Eiken Syndrome	Persistence of primary teeth, Delayed epiphyseal ossification, Thick lower lip vermilion, Flat ac...	OMIM:600002
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Delayed skeletal maturation, Genu valgum, Hypoplasia of teeth, Hypophosphatemic ri...	OMIM:613312
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
15Q24 Microdeletion Syndrome	Smooth philtrum, Epicanthus, Hearing impairment, Abnormality of the dentition, Thick lower lip ve...	ORPHA:94065
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus...	OMIM:615582
Bent Bone Dysplasia Syndrome 1	Natal tooth, Micrognathia, Gingival overgrowth, Decreased calvarial ossification, Malar flattenin...	OMIM:614592
Stickler Syndrome, Type I	Arthropathy, Micrognathia, Joint stiffness, Osteoarthritis, Submucous cleft hard palate, Pierre-R...	OMIM:108300
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Orofaciodigital Syndrome V	Unilateral ptosis, Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma o...	OMIM:174300
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Momo Syndrome	Delayed eruption of teeth, Delayed skeletal maturation, Thick lower lip vermilion, Dental maloccl...	OMIM:157980
Ritscher-Schinzel Syndrome 1	Micrognathia, Cleft palate, Coloboma, Low-set ears, Downslanted palpebral fissures, Anal atresia	OMIM:220210
Acrofacial Dysostosis, Cincinnati Type	Ablepharon, Aplastic zygomatic arch, Micrognathia, Hypoplasia of the maxilla, Lower eyelid colobo...	OMIM:616462
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Retrognathia, Cleft palate	OMIM:165590
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Short Tarsus With Absence Of Lower Eyelashes	Absent lower eyelashes, Hypoplasia of the lower eyelids	OMIM:600269
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Patchy scleros...	OMIM:218400
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Palpebral edema, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long philtrum	ORPHA:314647
Tolchin-Le Caignec Syndrome	Abnormal vestibular function, Hooded eyelid, Micrognathia, Sensorineural hearing impairment, Subm...	OMIM:618971
Faciocardiomelic Dysplasia, Lethal	Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia	OMIM:227270
Dubowitz Syndrome	Delayed eruption of teeth, Ptosis, Epicanthus, Telecanthus, Micrognathia, Carious teeth, Velophar...	OMIM:223370
Odontochondrodysplasia 1	Delayed eruption of teeth, Genu recurvatum, Osteoporosis, Flat acetabular roof, Delayed ossificat...	OMIM:184260
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Lop ear, Sensorineural hearing impairment, Optic disc coloboma, Cupped ...	OMIM:300472
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Oral mucosal blisters, Congenital pyloric atresia, Microtia, Neonatal death	OMIM:619817
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f...	ORPHA:1782
8Q24.3 Microdeletion Syndrome	Smooth philtrum, Thin upper lip vermilion, Epicanthus, Branchial cyst, Posteriorly rotated ears, ...	ORPHA:508488
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Highly arched eyebrow, Asymmetry of the ears, Sparse...	OMIM:619124
1Q41Q42 Microdeletion Syndrome	Upslanted palpebral fissure, Submucous cleft hard palate, Thick vermilion border, Cleft palate	ORPHA:250999
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Delayed closure of...	OMIM:607812
Raine Syndrome	Mandibular prognathia, Micrognathia, Protruding ear, High palate, Neonatal death, Microdontia, De...	OMIM:259775
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Osteopenia, Sclerosis of hand bone, Delayed closure of th...	OMIM:224300
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Epicanthus, Exaggerated cupid's bow, Hearing impairment, Micrognathia, Prominent ear helix, Upsla...	OMIM:618659
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula	OMIM:619239
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth...	ORPHA:1133
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Coloboma, Anal atresia, Simple ear	OMIM:619318
Anti-Glomerular Basement Membrane Disease	Arthritis, Persistence of primary teeth	ORPHA:375
Codas Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Abnormal dental morphology, Abnormal denta...	ORPHA:1458
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hearing impairment, Hypoplasia of the maxilla, ...	ORPHA:2588
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi...	OMIM:619950
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Coloboma, Orofacial cleft	ORPHA:324416
Neurooculocardiogenitourinary Syndrome	Epicanthus, Sensorineural hearing impairment, Downturned corners of mouth, Coloboma, Low-set ears...	OMIM:618652
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96263
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Iris coloboma	OMIM:610023
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Promin...	OMIM:200990
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hyp...	OMIM:170390
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno...	ORPHA:2314
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Highly arched eyebrow, Diastema, Bilateral ptosis, Synophrys, Protrudin...	ORPHA:329224
Otopalatodigital Syndrome, Type I	Selective tooth agenesis, Delayed closure of the anterior fontanelle, Absent frontal sinuses, Cap...	OMIM:311300
Three M Syndrome 2	Delayed eruption of teeth, Delayed skeletal maturation, Dental malocclusion, Thick vermilion bord...	OMIM:612921
Bartsocas-Papas Syndrome	Median cleft lip, Micrognathia, Cleft palate, Popliteal pterygium, Narrow mouth, Synostosis of jo...	ORPHA:1234
Isotretinoin Embryopathy-Like Syndrome	Anotia, Microtia, Cleft palate, Micrognathia	OMIM:243440
Cole-Carpenter Syndrome	Delayed eruption of teeth, Recurrent fractures, Abnormal dental enamel morphology, Micrognathia, ...	ORPHA:2050
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Abnormality of the dentition	ORPHA:289494
Lowry-Maclean Syndrome	Osteopenia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, nar...	ORPHA:2409
Trisomy 8P	Posteriorly rotated ears, Malrotation of small bowel, Aplasia/Hypoplasia of the tragus, Cleft pal...	ORPHA:264450
Desmosterolosis	Low-set, posteriorly rotated ears, Epicanthus, Intestinal malrotation, Micrognathia, Submucous cl...	ORPHA:35107
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Ma...	ORPHA:364028
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the knee, Cleft soft palate, Micrognathia, Genu valgum, Irregular acetabular roof,...	ORPHA:93316
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,...	OMIM:259600
Chand Syndrome	Cleft palate, Ankyloblepharon, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Ag...	ORPHA:1401
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96264
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Marbach-Rustad Progeroid Syndrome	Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Eruption failure, ...	OMIM:619322
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,...	OMIM:209885
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Hip dislocation, Oligodontia, Hypodontia	OMIM:614381
Frontofacionasal Dysplasia	Telecanthus, Cleft upper lip, Ankyloblepharon, Orofacial cleft, Eyelid coloboma, Bifid uvula, S-s...	OMIM:229400
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Hypodontia	OMIM:601345
Double Outlet Right Ventricle	Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard palate, Cl...	ORPHA:3426
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Abnormality of ...	OMIM:192430
Stevenson-Carey Syndrome	Posteriorly rotated ears, Pierre-Robin sequence, Downturned corners of mouth, Coloboma, Low-set e...	OMIM:611961
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Enlargement of the ankles, Recurrent fractures, Carious teeth, Delayed...	OMIM:277440
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture	OMIM:617105
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, Elbow dislocation, High, narrow palate, Hip dislocation, Radio...	ORPHA:3258
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm...	OMIM:216550
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Advanced eruption of teeth, High palate	OMIM:262190
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Abnormal eyelash morphology, Sparse eyebrow, Abnormality of cart...	ORPHA:2399
Holoprosencephaly 13, X-Linked	Median cleft lip, Hearing impairment, Micrognathia, Submucous cleft hard palate, Cleft palate, Mi...	OMIM:301043
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De...	OMIM:610829
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Short philtrum, Cleft palate	OMIM:617337
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Abnormal bone ossifica...	ORPHA:2563
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Congenital hip dislocation, Dental crowding, Multiple joint...	ORPHA:96170
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Epicanthus, Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velopharyngeal...	ORPHA:363444
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Malabsorption, Keratoconjunctivitis, Tympanosclerosis, Enamel hypoplasia	OMIM:240300
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Microtia, Thick vermilion b...	OMIM:613805
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t...	ORPHA:192
Tarp Syndrome	Posteriorly rotated ears, Micrognathia, Cleft palate, Tongue nodules, Prominent antihelix, Glosso...	OMIM:311900
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Absent trapezium, Pulp calcification, Absent scaphoid, Absent trapezoid bone, Microdontia, Distal...	OMIM:606895
Neu-Laxova Syndrome	Abnormal nasolacrimal system morphology, Abnormality of the philtrum, Abnormal eyelid morphology,...	ORPHA:2671
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Epicanthus, Posteriorly rotated ears, Hearing impairment, Abnormality of the dent...	OMIM:115150
Pachyonychia Congenita	Natal tooth, Angular cheilitis, Advanced eruption of teeth, Oral leukoplakia, Lower limb pain	ORPHA:2309
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth	OMIM:272300
Neuroocular Syndrome	Synophrys, Lens coloboma, Downturned corners of mouth, Widely spaced teeth, Torus palatinus, Iris...	OMIM:619539
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Hip dislocation, Osteolytic d...	ORPHA:2484
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of upper lip vermillion, Dental crowding, Abnormality of the dentition, Micrognathia,...	ORPHA:251028
Cockayne Syndrome Type 2	Mandibular prognathia, Delayed eruption of primary teeth, Flexion contracture, Widely spaced prim...	ORPHA:90322
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Dacryocystitis, Sensorineural hearing impairment, Gingival overgrowth, Coloboma, Thin vermilion b...	ORPHA:464288
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Prominent metopic ridge, Tented upper lip vermili...	OMIM:619148
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Congenital Disorder Of Glycosylation, Type Iig	Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Pierre-Robin sequence, Cleft pa...	OMIM:611209
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Cleft palate, Coloboma, Long philtrum, Retrognathia	OMIM:615583
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Limited elbow movement, Sagittal craniosynostos...	OMIM:101200
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal oss...	OMIM:264700
Microcephaly-Micromelia Syndrome	Micrognathia, Cleft palate, Low-set ears, Narrow mouth, Neonatal death, Short palpebral fissure	OMIM:251230
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar...	OMIM:618727
Congenital Disorder Of Glycosylation, Type Iiw	Micrognathia, Supernumerary tooth, Low-set ears, Recurrent otitis media, Ankyloglossia	OMIM:619525
Walker-Warburg Syndrome	Posteriorly rotated ears, Submucous cleft hard palate, Cleft palate, Protruding ear, Low-set ears...	ORPHA:899
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Tracheobronc...	OMIM:610253
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Hip subluxation, Pierre-...	OMIM:268305
Multiple Pterygium-Malignant Hyperthermia Syndrome	Prominent metopic ridge, Exaggerated cupid's bow, Camptodactyly of finger, Narrow mouth, Abnormal...	ORPHA:2215
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Delayed...	ORPHA:289157
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Sensorineural hearing impairment, Submucous cleft hard palate, Bifid uvula, Incomplete partition ...	OMIM:617660
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Micrognathia, Flexion contracture, Submucous cleft hard palate, Epiphyseal stippling,...	OMIM:222765
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Accelerated skeletal maturation, Hypoplasia of ...	ORPHA:950
Biemond Syndrome Type 2	Coloboma	ORPHA:141333
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Lissencephaly 7 With Cerebellar Hypoplasia	Downturned corners of mouth, Death in infancy, Neonatal death, Micrognathia	OMIM:616342
2Q31.1 Microdeletion Syndrome	Epicanthus, Micrognathia, Synophrys, Optic disc coloboma, Deep philtrum, Cleft palate, Downturned...	ORPHA:251014
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
3M Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Abnormal dental enamel morphology, Delayed...	ORPHA:2616
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, A...	ORPHA:2753
Joubert Syndrome 23	Coloboma	OMIM:616490
Kabuki Syndrome	Ptosis, Abnormal dental morphology, Highly arched eyebrow, Lip pit, Abnormality of the dentition,...	ORPHA:2322
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Low-set ears	OMIM:614870
Emanuel Syndrome	Broad jaw, Congenital hip dislocation, Dental crowding, Intestinal malrotation, Delayed eruption ...	OMIM:609029
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Micrognathia, Abnormality of the gingiva, Absent cupid's bow, Abnorm...	ORPHA:513456
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	High-frequency sensorineural hearing impairment, Epicanthus, Mixed hearing impairment, Cleft soft...	OMIM:614557
Carpenter Syndrome 1	Sagittal craniosynostosis, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia,...	OMIM:201000
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Osteopenia, Joint dislocation, Abnormal dental enamel morphology, Abno...	ORPHA:221016
Trisomy 9P	Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth	ORPHA:236
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Micrognathia, Patellar aplasia, Knee flexion contract...	ORPHA:85201
Ear-Patella-Short Stature Syndrome	Microtia, third degree, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, High, ...	ORPHA:2554
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia	ORPHA:447896
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper...	ORPHA:819
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Thickened helices, Abnormal eyelash morphology, Su...	ORPHA:1340
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Esophageal atresia, ...	ORPHA:87
8P Inverted Duplication/Deletion Syndrome	Micrognathia, High, narrow palate, Abnormality of dental eruption, Hip dislocation, Wide mouth, C...	ORPHA:96092
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Rectal prolapse, Delayed skeletal maturation, Gingival overgrowth, Nar...	OMIM:235510
Kabuki Syndrome 2	Joint laxity, Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Hip dislocation, Cle...	OMIM:300867
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Volvulus, Ankle flexion contracture, Micrognathia	OMIM:617802
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, High palate, Low-set ear...	ORPHA:457279
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Malabsorption, Delayed skeletal maturati...	ORPHA:2315
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosis, Micrognathia, ...	OMIM:145420
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
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Sagittal craniosynostosis, Micrognathia	OMIM:616901
Solitary Median Maxillary Central Incisor	Cleft upper lip, Prominent median palatal raphe, Coloboma, Torus palatinus, Solitary median maxil...	OMIM:147250
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Angular cheilitis	OMIM:167210
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Micrognathia, Gingival overgrowth, Metopic depression, Decreased calvari...	ORPHA:313855
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi...	ORPHA:37553
Dyssegmental Dysplasia, Silverman-Handmaker Type	Posteriorly rotated ears, Micrognathia, Narrow mouth, Neonatal death, Malar flattening, Pterygium	OMIM:224410
Short Syndrome	Delayed eruption of teeth, Joint laxity, Micrognathia, Delayed skeletal maturation, Dental malocc...	OMIM:269880
Marshall Syndrome	Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s...	OMIM:154780
Congenital Myopathy 22A, Classic	Dental crowding, Micrognathia, Bilateral ptosis, Synophrys, High palate, Neonatal death, Open mou...	OMIM:620351
Dubowitz Syndrome	Delayed eruption of teeth, Ptosis, Epicanthus, Telecanthus, Anal stenosis, Low-set, posteriorly r...	ORPHA:235
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Enamel hypoplasia, Subcutaneous ossification, Osteoporosis	OMIM:103580
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Thin upper lip vermilion, Epicanthus, Posteriorly rotated ears, Prominent crus ...	OMIM:619194
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Low-set ears, Retrogn...	OMIM:619227
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Block vertebrae, Tarsal synostosis, Capitate-hamate fusion, Delayed skeletal ma...	OMIM:272460
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Delayed skeletal maturation, Osteoporosis, Micrognathia	ORPHA:73272
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Delayed skeletal maturation, Join...	ORPHA:2067
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Carious teeth...	ORPHA:2769
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Death in infancy, Retrognathia, High palate	OMIM:300219
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Bifid uvula, Cleft upper...	OMIM:300373
Warburg-Cinotti Syndrome	Epicanthus, Dental crowding, Symblepharon, Posteriorly rotated ears, Conductive hearing impairmen...	OMIM:618175
Renpenning Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Telecanthus, Macrodontia, Hearing im...	OMIM:309500
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Hooded eyelid, Uplifted earlobe, Micrognathia, Synophrys, Short philtrum, ...	OMIM:619841
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Abnormal nasolacrimal system morphology, Posteriorly rotated ears, Micrognathia, Submucous cleft ...	ORPHA:3047
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Hearing impairment, Cleft palate, Furrowed tongue, Downturned corners of mouth, Coloboma, Oligodo...	ORPHA:453499
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat...	ORPHA:289
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Large knee, Delayed eruption of permanent teeth, Periodontitis, Premature loss of tee...	OMIM:619269
Mednik Syndrome	Death in infancy, Jejunal atresia, Sensorineural hearing impairment, Upslanted palpebral fissure,...	OMIM:609313
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis	OMIM:612462
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Flexion contracture of finger, Recurrent fractures, Micrognathia, Hypo...	OMIM:601812
Sotos Syndrome	Mandibular prognathia, Joint laxity, Accelerated skeletal maturation, High, narrow palate, Narrow...	OMIM:117550
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth,...	OMIM:620370
Holoprosencephaly 3	Cleft lip, Cleft palate, Solitary median maxillary central incisor, Malar flattening, Cyclopia, B...	OMIM:142945
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Epicanthus, Sensorineural hearing impairment, Microtia, High palate, Hypoplasia of the zygomatic ...	OMIM:618500
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Mixed hearing impairment, Thickened helices, Malabsorption, Abnormalit...	ORPHA:581
Immunodeficiency 49	Wormian bones, Natal tooth, Short philtrum, Micrognathia	OMIM:617237
Restrictive Dermopathy 1	Natal tooth, Entropion, Sparse eyelashes, Micrognathia, Absent eyelashes, Sparse eyebrow, Submuco...	OMIM:275210
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Narrow palpebral fissure, Stillbirth, Low-set ears, Neonatal death	OMIM:236500
Trichothiodystrophy 3, Photosensitive	Natal tooth, Carious teeth, Pyloric stenosis, Eclabion, Meckel diverticulum	OMIM:616395
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Marden-Walker Syndrome	Posteriorly rotated ears, Micrognathia, Pyloric stenosis, Submucous cleft hard palate, Cleft pala...	ORPHA:2461
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor...	OMIM:615866
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Increased bone mineral density, Osteomalacia, Rickets of the lower lim...	ORPHA:289176
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Increased bone mineral density, Abnormal dental enamel morphology, High, n...	ORPHA:2658
Joubert Syndrome 16	Coloboma	OMIM:614465
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Craniosynostosis, Gingival overgrowth, Narrow palate, Anteriorly placed anus, High p...	OMIM:123790
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Hiatus hernia, Dental crowding, Persistence of primary teeth	OMIM:619769
Diamond-Blackfan Anemia	Epicanthus, Cleft soft palate, Micrognathia, Cleft lip, Microtia, High palate, Low-set ears, Aden...	ORPHA:124
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Hamartoma of tongue, Unicoronal synostosis, Cleft lip, Hypoplasti...	OMIM:616300
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Joint hypermobility, Carious teeth, Widely spaced...	OMIM:619229
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Ankyloblepharon, Cleft palate, Popliteal pter...	OMIM:119500
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Bone pain, Reduced bo...	ORPHA:828
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Rectal atresia, Neonatal death, Anal atresia	OMIM:613390
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ...	ORPHA:352665
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Accelerated skeletal m...	ORPHA:199276
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia	ORPHA:466722
Microphthalmia, Syndromic 5	Coloboma, Cleft palate	OMIM:610125
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s...	ORPHA:2363
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Natal tooth, Cleft palate	ORPHA:158687
Coach Syndrome 2	Coloboma, Chorioretinal coloboma	OMIM:619111
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Flexion contracture, Knee...	OMIM:143095
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Intestinal pseudo-obstruction, Thick lower lip vermilion, Flexion cont...	OMIM:309900
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Protein-losing enteropathy, Low-set ears, Long philtrum, Neonatal death	OMIM:608104
46,Xy Sex Reversal 4	Distal symphalangism, Micrognathia, Cleft palate, High palate, Long philtrum, Anal atresia	OMIM:154230
Aplasia Of Lacrimal And Salivary Glands	Absent lacrimal punctum, Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Lacrimal gland apl...	OMIM:180920
Microphthalmia With Limb Anomalies	Macrodontia, Hypoplasia of the premaxilla, Tarsal synostosis, Cleft upper lip, Hypoplasia of the ...	ORPHA:1106
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion	OMIM:616202
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormality of th...	ORPHA:568
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Accelerated skeletal maturation, Hypoplasia of ...	OMIM:101800
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Smooth philtrum, Epicanthus, Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, C...	OMIM:616975
Glutamine Deficiency, Congenital	Neonatal death, Thin vermilion border, Low-set ears	OMIM:610015
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Micrognathia, Neonatal death, Narrow mouth	OMIM:618810
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Camptodactyly, J...	OMIM:247200
Robinow Syndrome, Autosomal Recessive 1	Joint laxity, Thin upper lip vermilion, Vertebral fusion, Tented upper lip vermilion, Dental crow...	OMIM:268310
Coffin-Siris Syndrome 12	Micrognathia, Synophrys, Protruding ear, High palate, Simple ear, Highly arched eyebrow, Low-set ...	OMIM:619325
Zttk Syndrome	Epicanthus, Abnormality of the dentition, Sparse eyebrow, Hypoplasia of the maxilla, Submucous cl...	OMIM:617140
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Abnormality of the dentition, Thick lower lip vermilion, Tracheomalacia, Anal atresia	ORPHA:261652
Steinfeld Syndrome	Abnormal pinna morphology, Hearing impairment, Retinal coloboma, Iris coloboma, Bifid uvula, Medi...	OMIM:184705
Cerebellar-Facial-Dental Syndrome	Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Long philtrum, Macrodo...	ORPHA:444072
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A...	ORPHA:534
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Osteopenia, Abnormal dental enamel morphology, Abnormality of the dent...	ORPHA:221008
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hypoplasia of eyelid, Intestinal malrotation, Cleft soft palate, Downturned corners of mouth, Smo...	OMIM:619321
Blomstrand Lethal Chondrodysplasia	Natal tooth, Increased bone mineral density, Protruding tongue, Micrognathia, Accelerated skeleta...	ORPHA:50945
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft upper lip, High, narrow ...	OMIM:122470
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Posteriorly rotated ears, Micrognathia, Congenital sensorineural hearing impairment, Coloboma, Sh...	OMIM:617306
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Abnormality of the dentition, Micrognathia, Eruption failure, High palate, Long ...	ORPHA:476126
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Submucous cleft hard palate, ...	OMIM:157170
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Micrognathia, Synophrys, Deep philtrum, Downturned corner...	OMIM:619503
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Accelerated skeletal maturation, O...	ORPHA:77301
Gapo Syndrome	Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Micrognathia, High, n...	OMIM:230740
Epidermolysis Bullosa, Lethal Acantholytic	Neonatal death, Natal tooth	OMIM:609638
De Barsy Syndrome	Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Delayed closure of the anterio...	ORPHA:2962
Thauvin-Robinet-Faivre Syndrome	Epicanthus, Sensorineural hearing impairment, Protruding ear, Coloboma, Macroglossia, Retinal col...	OMIM:617107
Robinow Syndrome	Fused thoracic vertebrae, Dental crowding, Persistence of primary teeth, Micrognathia, Dental mal...	ORPHA:97360
Ramon Syndrome	Delayed eruption of teeth, Juvenile rheumatoid arthritis, Gingival fibromatosis, Narrow palate	OMIM:266270
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, High, narrow palate, Upslanted palpebral fissure, Wide mouth, Widely spaced teet...	OMIM:300967
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Delayed eruption of p...	ORPHA:521445
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Hip dislocation, Cleft palate,...	OMIM:309350
Hardikar Syndrome	Lacrimal duct stenosis, Cleft soft palate, Intestinal malrotation, Celiac disease, Vertigo, Esoph...	OMIM:301068
Cockayne Syndrome Type 1	Mandibular prognathia, Foot joint contracture, Delayed eruption of primary teeth, Abnormality of ...	ORPHA:90321
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Uplifted earlobe, Pyloric stenosis, Submucous c...	OMIM:235730
Short-Rib Thoracic Dysplasia 12	Natal tooth, Epicanthus, Median cleft lip, Posteriorly rotated ears, Intestinal malrotation, Hama...	OMIM:269860
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Stillbirth, Tongue fasciculations, Death in childhood, Neonatal death, Hearing ...	OMIM:614922
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Osteopenia, Camptodactyly of finger, Craniosyno...	OMIM:166250
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v...	ORPHA:73223
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Abnormality of the dentition, Delayed skeletal maturation...	ORPHA:769
Codas Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Generalized joint laxity, Delayed skeletal...	OMIM:600373
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Hyperextensibility of the finger joints, Gingiv...	OMIM:135500
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Abnormal pinna morphology, Esophageal diverticulum, Hamartoma of tongue, Micrognathi...	OMIM:617925
Afibrinogenemia, Congenital	Death in infancy, Death in adolescence, Gingival bleeding, Death in childhood, Neonatal death	OMIM:202400
Microphthalmia, Syndromic 1	Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate, Chorioretina...	OMIM:309800
Peters-Plus Syndrome	Short lingual frenulum, Micrognathia, Hypoplasia of the maxilla, Protruding ear, Anteriorly place...	OMIM:261540
Familial Partial Lipodystrophy, Dunnigan Type	Advanced eruption of teeth	ORPHA:2348
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone mineral density, Diaphyseal sclerosis, Increased bone d...	ORPHA:94089
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Flexion contracture, Alveolar ridge overgrowth...	OMIM:301072
Opitz Gbbb Syndrome	Natal tooth, Prominent metopic ridge, Craniosynostosis, Micrognathia, Cleft lip, Tracheoesophagea...	ORPHA:2745
Spondyloenchondrodysplasia	Delayed eruption of teeth, Dental malocclusion, Arthritis, Juvenile rheumatoid arthritis, Lower l...	ORPHA:1855
Campomelic Dysplasia	Irregular dentition, Epicanthus, Hearing impairment, Micrognathia, Carious teeth, Conductive hear...	OMIM:114290
Restrictive Dermopathy	Natal tooth, Telecanthus, Entropion, Micrognathia, Sparse eyebrow, Submucous cleft hard palate, T...	ORPHA:1662
Hutchinson-Gilford Progeria Syndrome	Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Posteriorly rotated ears, Micrognathia, Loss of eyelashes, Submucous cleft hard palate, Cleft pal...	ORPHA:2636
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, High palate, Broad uvula, Bifid uvula, Micr...	OMIM:619472
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Cleft lip, Thick lower lip vermilion, Cleft palate, Wide mouth, Short ...	OMIM:280000
Chromosome 1P36 Deletion Syndrome, Distal	Synophrys, Orofacial cleft, High palate, Conductive hearing impairment, Thickened helices, Bifid ...	OMIM:607872
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micrognathia, Osteoarthritis, Flexion contracture, Bone ...	ORPHA:666
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Coloboma, Long eyelashes, Long philtrum, Cryptophthalmos	OMIM:615877
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod...	ORPHA:464
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth	ORPHA:1231
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Delayed skeletal maturation, Decreased skull ossific...	ORPHA:93325
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l...	ORPHA:369950
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Joint stiffness, Carious teeth, Flexion contracture, Genu valgum, Macr...	OMIM:253200
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Thick upper lip vermilion, Medi...	OMIM:612651
Charge Syndrome	Eyelid coloboma, Hypoplasia of the semicircular canal, Chorioretinal coloboma, Iris coloboma, Low...	ORPHA:138
Helsmoortel-Van Der Aa Syndrome	Joint laxity, Thin upper lip vermilion, Carious teeth, High, narrow palate, Thick lower lip vermi...	OMIM:615873
Rubinstein-Taybi Syndrome 1	Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:180849
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cleft upper lip, Micrognathia, Cleft palate, Coloboma, Microtia, Atresia of the external auditory...	OMIM:236670
Acro-Renal-Ocular Syndrome	Epicanthus, Aganglionic megacolon, Sensorineural hearing impairment, Optic disc coloboma, Colobom...	ORPHA:959
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Th...	ORPHA:2785
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Wormian bon...	OMIM:278250
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Micrognathia, Microtia, Everted lower lip vermilion, Low-set ears, N...	OMIM:608013
Bohring-Opitz Syndrome	Low-set, posteriorly rotated ears, Micrognathia, Cleft lip, Synophrys, Cleft palate, Coloboma, Re...	ORPHA:97297
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Epicanthus, Sparse eyebrow, Hypoplasia of the maxilla, Cleft palate, Protruding ear, Downturned c...	ORPHA:500150
Phosphoribosylaminoimidazole Carboxylase Deficiency	Neonatal death, Esophageal atresia, Tracheoesophageal fistula, Low-set ears	OMIM:619859
Singleton-Merten Syndrome 1	Osteopenia, Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Osteoporosis, Hip...	OMIM:182250
Pallister-Hall Syndrome	Natal tooth, Posteriorly rotated ears, Cleft upper lip, Cleft palate, Anteriorly placed anus, Mic...	OMIM:146510
Lead Poisoning	Delayed eruption of teeth, Delayed skeletal maturation	ORPHA:330015
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Anteriorly placed anus, Olig...	OMIM:612289
Atelosteogenesis, Type I	Micrognathia, Cleft palate, Stillbirth, Low-set ears, Neonatal death, Malar flattening	OMIM:108720
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Widely spaced teeth,...	ORPHA:2152
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Deep philtrum, High palate, Open mouth, Retrognathia	ORPHA:1675
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Bifi...	ORPHA:261537
Pitt-Hopkins Syndrome	Aganglionic megacolon, Hiatus hernia, Wide mouth, Thick vermilion border, Short philtrum, Esophag...	ORPHA:2896
Diarrhea 10, Protein-Losing Enteropathy Type	Death in infancy, Micrognathia, Coloboma, Protein-losing enteropathy, Low-set ears	OMIM:618183
Doors Syndrome	Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v...	ORPHA:79500
Wiedemann-Rautenstrauch Syndrome	Synophrys, Abnormality of the ear, Downturned corners of mouth, Short philtrum, Premature loss of...	ORPHA:3455
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Osteopenia, Sinusitis, Osteomyelitis, Carious teeth, Delayed skeletal ...	ORPHA:811
Microphthalmia, Syndromic 6	Posteriorly rotated ears, Uplifted earlobe, Micrognathia, Orbital cyst, Retrognathia, Cleft palat...	OMIM:607932
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Advanced eruption of teeth, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the ...	ORPHA:280365
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Cleft palate, Downturned corn...	OMIM:616268
Aprosencephaly And Cerebellar Dysgenesis	Bifid uvula, Craniosynostosis, Micrognathia	OMIM:601374
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Micrognathia, Abnormality of the gingiva, Wide ...	ORPHA:798
Neu-Laxova Syndrome 1	Ablepharon, Cleft upper lip, Absent eyelashes, Swollen lip, Micrognathia, Thick lower lip vermili...	OMIM:256520
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Carious teeth, Osteoporosis, Oral ulcer, Gingivitis, Enterocolitis, Ulcerative coliti...	ORPHA:79259
Esophageal Atresia	Barrett esophagus, Intestinal malrotation, Hearing impairment, Cleft lip, Pyloric stenosis, Abnor...	ORPHA:1199
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Bifi...	ORPHA:261552
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Joint laxity, Avascular necrosis of the capital ...	ORPHA:93357
Wrinkly Skin Syndrome	Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Delayed closure of the anterio...	ORPHA:2834
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Delayed skeletal maturation, T...	ORPHA:1465
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent fractures, Premature loss of primary teeth, Craniosynostosis...	ORPHA:667
Ctcf-Related Neurodevelopmental Disorder	Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Thin vermilion border, Shor...	ORPHA:363611
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Low-set ears, Death in childhood, Neonatal death, Long philtrum	OMIM:614052
Incontinentia Pigmenti	Delayed eruption of teeth, Oligodontia, Hypodontia, Conical tooth	OMIM:308300
Autosomal Dominant Keratitis	Aniridia, Coloboma	ORPHA:2334
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Hiatus hernia, Avascular necrosis of the capital femoral epiphysis, Hig...	ORPHA:198
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Ectopic ossification, Enamel hypoplasia, Increased bone mineral density	ORPHA:79444
Lethal Congenital Contracture Syndrome 1	Neonatal death, Micrognathia	OMIM:253310
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Duodenal ulcer, Intestinal mal...	OMIM:135900
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Ankle clonus, Talipes valgus, Submucous cleft hard palate, Flexion contracture	OMIM:618891
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Delayed eruption of primary teeth, Carious teeth, Limitat...	OMIM:216400
Adnp Syndrome	Joint laxity, Thin upper lip vermilion, Thick lower lip vermilion, Advanced eruption of teeth, Sm...	ORPHA:404448
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Death in infancy, Hearing impairment	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Death in infancy, Hearing impairment	OMIM:618839
Cornelia De Lange Syndrome	Delayed eruption of teeth, Intestinal malrotation, Micrognathia, Joint stiffness, Pyloric stenosi...	ORPHA:199
Camurati-Engelmann Disease	Delayed eruption of teeth, Carious teeth, Craniofacial osteosclerosis, Bone pain, Limitation of j...	ORPHA:1328
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Gingival overgrowth	ORPHA:508542
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Increased bone mineral density, Reduced bone mineral density, Ectopic ...	ORPHA:79443
Meckel Syndrome, Type 1	Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Camptodactyly of finger, Cleft upp...	OMIM:249000
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Downturned co...	OMIM:620186
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth	OMIM:300952
Cockayne Syndrome B	Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Limitation of joint mobi...	OMIM:133540
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, Advanced erup...	ORPHA:1519
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormality of the dentition	ORPHA:2036
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Delayed closure of the anterior fontanelle, Micrognathia,...	OMIM:264090
Bloom Syndrome	Malar flattening, Agenesis of maxillary lateral incisor, Protruding ear	OMIM:210900
Anterior Segment Dysgenesis 2	Aniridia, Coloboma	OMIM:610256
Focal Dermal Hypoplasia	Delayed eruption of teeth, Joint laxity, Congenital hip dislocation, Intestinal malrotation, Clef...	OMIM:305600
Roberts-Sc Phocomelia Syndrome	Posteriorly rotated ears, Abnormal pinna morphology, Cleft upper lip, Micrognathia, Cleft palate,...	OMIM:268300
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Micrognath...	OMIM:606170
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth	OMIM:617799
Floating-Harbor Syndrome	Enlarged joints, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Celiac d...	ORPHA:2044
Charge Syndrome	Micrognathia, Coloboma, Iris coloboma, Cleft upper lip, Aplasia of the semicircular canal, Esopha...	OMIM:214800
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Intestinal malrotation, Micrognathia, Esophageal atresia, Cleft lip, Tracheoesophageal fistula, C...	OMIM:265380
Williams Syndrome	Osteopenia, Micrognathia, Rectal prolapse, Microdontia, Joint laxity, Increased bone mineral dens...	ORPHA:904
Lymphatic Malformation 13	Neonatal death, Unilateral deafness, Smooth philtrum, Long philtrum	OMIM:620244
Cockayne Syndrome	Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion...	ORPHA:191
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Anal atresia, Persistent cloaca	OMIM:615709
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Death in infancy, Aganglionic megacolon, Hearing impairment, Absent eyelashes, Cl...	OMIM:308205
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Microcolon	OMIM:619362
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Accessory oral frenulum, Cleft lip, Radial head subluxation, Hip ...	ORPHA:672
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Micrognathia, Flexion contracture, Anteri...	OMIM:601803
Sotos Syndrome	Joint laxity, Hip contracture, Aganglionic megacolon, Ankle flexion contracture, Abnormality of t...	ORPHA:821

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 Osr2

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 Osr2.

No publications found that use IMPC mice or data for Osr2.

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
Osr2^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Osr2^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	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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