Gene: 4930453N24Rik MGI:1914859

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

RIKEN cDNA 4930453N24 gene

Synonyms:

din

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 4930453N24Rik 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 4930453N24Rik (0 diseases)
Human diseases predicted to be associated with 4930453N24Rik (963 diseases)

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

The table below shows human diseases predicted to be associated to 4930453N24Rik by phenotypic similarity.

Disease	Matching phenotypes	Source
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi...	OMIM:617297
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Delayed eruption of teeth, Hearing impairment, Gingival overgrowth,...	ORPHA:2222
Trichodental Dysplasia	Conical tooth, Fine hair, Hypodontia, Slow-growing hair, Brittle hair, Sparse hair, Odontodysplasia	OMIM:601453
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Patchy alopecia, Tongue atrophy, Poliosis, Short ...	OMIM:141300
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Hearing impairment, Gen...	ORPHA:49042
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno...	ORPHA:477781
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar	OMIM:114700
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion...	ORPHA:83451
Gigantiform Cementoma, Familial	Tooth malposition, Cementoma, Multiple impacted teeth	OMIM:137575
Anonychia-Microcephaly Syndrome	Abnormality of the dentition, Aplastic/hypoplastic toenail, Carious teeth, Anonychia	ORPHA:1094
Splenogonadal Fusion With Limb Defects And Micrognathia	Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors	OMIM:183300
Cleft Palate, Isolated	Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate	OMIM:119540
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the dentition, Conical tooth, Ridged fingernail, Thin toenail, Delayed eruption of...	ORPHA:2228
Dentin Dysplasia, Type I	Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration...	OMIM:125400
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Low-set ears, Microglossia, Dental malocclusion, Dental crowding, Hea...	OMIM:614669
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Intellectual Developmental Disorder, X-Linked 58	Short philtrum, Dental malocclusion, Small nail	OMIM:300210
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Delayed eruption of teeth, Sensorineural hearing impairment, Short sta...	ORPHA:71267
Craniofacial Microsomia 2	Bifid uvula, Microtia, first degree, Microtia, second degree, Microtia, third degree, Micrognathi...	OMIM:620444
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Sparse eyebrow, Dental malocclusion, Tiger tail banding, Nail dystrophy, Spa...	OMIM:619692
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Malar f...	ORPHA:2972
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Gingival Fibromatosis-Hypertrichosis Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth, Thick eyebrow, Hirs...	ORPHA:2026
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Tinnitus, Dentinogenesis imperfecta, High-frequency hearing impairment, Bilateral sensorineural h...	OMIM:605594
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Low-set ears, Dental malocclusion, Dental crowding, Cupped ear, Cleft...	OMIM:602483
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Dental malocclusion, Widely spaced teeth, Malar flattening, Attached earlobe, Bone spicule pigmen...	OMIM:616108
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta, Alopecia of scalp, Trichodysplasia	ORPHA:79129
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Delayed eruption of teeth, Hearing impairment, Tooth agenesis, Abnor...	ORPHA:2325
Pfeiffer-Palm-Teller Syndrome	Short stature, Enamel hypoplasia, Abnormal pinna morphology	ORPHA:2871
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion, Short stature, Anteverted ears, Macrotia, Synophrys	OMIM:615541
Gingival Fibromatosis-Progressive Deafness Syndrome	Sensorineural hearing impairment, Gingival fibromatosis, Delayed eruption of teeth, Gingival over...	ORPHA:2027
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Amelogenesis Imperfecta, Type Ia	Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:104530
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Nail dystrophy, Oral mucosal blisters, Hypodontia, Patchy alopecia, Enamel hypopla...	OMIM:226650
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Sensorineural hearing impairment,...	OMIM:166750
Conductive Deafness-Malformed External Ear Syndrome	Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ...	ORPHA:3216
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Mcdonough Syndrome	Dental malocclusion, Open bite, Low-set, posteriorly rotated ears, Micrognathia, Abnormal palate ...	ORPHA:2471
Rubinstein-Taybi Syndrome 2	Narrow palate, Highly arched eyebrow, Carious teeth, Dental malocclusion, Retrognathia, Long eyel...	OMIM:613684
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo...	OMIM:616221
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Severe short stature, Alopecia, Carious teeth, Generalized hypoplasia of dental enamel, Large fle...	OMIM:203550
Meier-Gorlin Syndrome 8	Low-set ears, Intrauterine growth retardation, Micrognathia, Narrow mouth, Thick vermilion border...	OMIM:617564
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Low-set ears, High anterior hairline, Short stature, Notched primary central incisor, Sparse scal...	OMIM:620062
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Nail dystrophy, Oral mucosal blisters, Scarring alopecia of scalp, Enamel hypop...	ORPHA:79402
Maxillonasal Dysplasia, Binder Type	Large earlobe, Dental malocclusion	OMIM:155050
Steatocystoma Multiplex With Natal Teeth	Natal tooth, Abnormality of the nail	OMIM:184510
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Late-Onset Junctional Epidermolysis Bullosa	Carious teeth, Nail dystrophy, Oral mucosal blisters, Anonychia, Enamel hypoplasia	ORPHA:79406
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Con...	ORPHA:199306
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Severe short stature, Failure of eruption of permanent te...	ORPHA:3238
Mandibulofacial Dysostosis With Alopecia	Low-set ears, Hypoplasia of the maxilla, Alopecia, Dental crowding, Cupped ear, Conductive hearin...	OMIM:616367
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Thick eyebrow, Exagge...	ORPHA:2025
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Natal tooth, Dental malocclusion, Nail dystrophy, Nail dysplasia, T...	OMIM:601957
Filippi Syndrome	Frontal hirsutism, Hypertrichosis, Serrated incisors, Abnormal dental morphology, Postnatal growt...	OMIM:272440
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Toenail dysplasia, Small nail, Abnormal fingernail m...	ORPHA:952
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth...	OMIM:612529
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Irregular hyperpigmentation, Delayed eruption of teeth, Abnormal eyebrow morphology, Generalized ...	ORPHA:1816
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, Sparse hair	ORPHA:2266
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia	OMIM:614832
Epidermolysis Bullosa, Junctional 4, Intermediate	Dental enamel pits, Carious teeth, Nail dystrophy, Dystrophic fingernails, Scarring alopecia of s...	OMIM:619787
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Cleft...	OMIM:618761
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Fine hair, Tooth agenesis, Ab...	ORPHA:1028
Trichodentoosseous Syndrome	Widely spaced teeth, Abnormal hair morphology, Microdontia, Taurodontia, Fragile nails	OMIM:190320
Junctional Epidermolysis Bullosa Inversa	Carious teeth, Nail dystrophy, Oral mucosal blisters, Anonychia, Enamel hypoplasia	ORPHA:79405
Trisomy 9P	Dental crowding, Downturned corners of mouth, Hypoplastic fingernail, Impacted tooth, Fingernail ...	ORPHA:236
Osteoglosphonic Dysplasia	Severe short stature, Rhizomelia, Tooth agenesis, Micrognathia, Protruding ear, Multiple unerupte...	ORPHA:2645
Atkin-Flaitz Syndrome	Abnormality of the dentition, Everted lower lip vermilion, Thick vermilion border, Short stature,...	ORPHA:1193
Anonychia With Flexural Pigmentation	Carious teeth, Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morpholog...	ORPHA:69125
Amelogenesis Imperfecta, Type Ik	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:620104
Pili Torti	Abnormality of the dentition, Alopecia, Hearing impairment, Abnormal dental enamel morphology, Ab...	ORPHA:2889
Craniosynostosis 3	Dental malocclusion, Low anterior hairline	OMIM:615314
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic...	ORPHA:3352
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	High palate, Mandibular prognathia, Dental malocclusion, Mild short stature	OMIM:618292
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Dental malocclusion, Atresia of the external auditory canal, Conductive hearing impairment, Small...	OMIM:608257
Fused Mandibular Incisors	Abnormality of the dentition, Advanced eruption of teeth	ORPHA:2287
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Carious teeth, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Conic...	OMIM:614564
Odontomicronychial Dysplasia	Abnormality of the dentition, Carious teeth, Short nail, Premature loss of primary teeth, Prematu...	ORPHA:1811
Wilson-Turner Syndrome	Malar prominence, Micrognathia, Thick eyebrow, Thin upper lip vermilion, Short stature, Microtia	ORPHA:3459
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Sparse hair, Enamel hypoplasia, Macrotia	OMIM:613576
Ectodermal Dysplasia-Syndactyly Syndrome 1	Conical tooth, Alopecia, Coarse hair, Small nail, Widely spaced teeth, Hypoplastic toenails, Spar...	OMIM:613573
Heimler Syndrome 1	Retinal pigment epithelial mottling, Leukonychia, Sensorineural hearing impairment, Amelogenesis ...	OMIM:234580
Intellectual Developmental Disorder, Autosomal Dominant 21	Low-set ears, Long philtrum, Long eyelashes, Narrow mouth, Short stature, Thin vermilion border, ...	OMIM:615502
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short stature, Abnormality of the dentition, Mandibular prognathia, Dental malocclusion	ORPHA:1858
Pili Torti, Early-Onset	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co...	OMIM:261900
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Low-set ears, Long philtrum, Micrognathia, Malar flattening, Hirsutism, Thin upper lip vermilion,...	ORPHA:357175
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Narrow mouth, Abnormal oral cavity morphology, Short stature, Hypo...	ORPHA:1355
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Dentinogenesis imperfecta	ORPHA:166277
Camptodactyly Syndrome, Guadalajara Type 1	Highly arched eyebrow, Dental malocclusion, Downturned corners of mouth, Open bite, Low-set, post...	ORPHA:1327
Intellectual Developmental Disorder, Autosomal Recessive 35	Low-set ears, Downturned corners of mouth, Long philtrum, Micrognathia, Malar flattening, Hirsuti...	OMIM:615162
17Q11.2 Microduplication Syndrome	Sparse eyebrow, Abnormal dental enamel morphology, Malar flattening, Sparse eyelashes, Enamel hyp...	ORPHA:139474
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Microtia, first degree, Widely spaced teeth, Peg-shaped maxillary lateral incisors...	OMIM:610706
Trichothiodystrophy 2, Photosensitive	Short stature, Tiger tail banding, Agenesis of maxillary lateral incisor, Coarse hair	OMIM:616390
Zechi-Ceide Syndrome	Low-set ears, Abnormal helix morphology, Cleft lip, Conductive hearing impairment, Downturned cor...	ORPHA:217017
Mandibulofacial Dysostosis-Microcephaly Syndrome	Low-set ears, Abnormality of the outer ear, Hypoplasia of the maxilla, Absent tragus, Conductive ...	ORPHA:79113
Osteogenesis Imperfecta, Type Xix	Severe short stature, Dentinogenesis imperfecta, Rhizomelia, Hearing impairment	OMIM:301014
Amelogenesis Imperfecta, Type Iv	Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia	OMIM:104510
Brachydactyly, Type E1	Multiple impacted teeth, Moderately short stature	OMIM:113300
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, Delayed eruption of teeth, Hearing impairment, Micrognathia, Narrow mo...	OMIM:613849
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Abnormality of the crus of the helix, Microglossia, Dent...	ORPHA:137888
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Low-set ears, Dental malocclusion, Diastema, Micrognathia, Malar flattening, Attached earlobe, Sh...	ORPHA:436245
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Tooth agenesis, Micrognathia, Abnormal palate morphology, Multiple unerupted teeth, Crowded maxil...	ORPHA:2063
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystro...	ORPHA:251393
Lowry-Maclean Syndrome	Intrauterine growth retardation, Delayed eruption of teeth, Cleft palate	OMIM:600252
3-Hydroxyisobutyric Aciduria	Intrauterine growth retardation, Micrognathia, Long philtrum, Microtia	ORPHA:939
X-Linked Hypohidrotic Ectodermal Dysplasia	Everted upper lip vermilion, Delayed eruption of teeth, Sparse body hair, Microdontia, Everted lo...	ORPHA:181
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal dental morphology, Abnormal hair mo...	ORPHA:248
Ramon Syndrome	Conductive hearing impairment, Delayed eruption of teeth, Abnormal dental enamel morphology, Abno...	ORPHA:3019
Osteogenesis Imperfecta, Type Xxii	Short stature, Dentinogenesis imperfecta, Intrauterine growth retardation, Hearing impairment	OMIM:619795
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Johnson Neuroectodermal Syndrome	Severe short stature, Alopecia, Carious teeth, Conductive hearing impairment, Atresia of the exte...	ORPHA:2316
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:616270
Odontochondrodysplasia	Short stature, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia	ORPHA:166272
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Nail dystrophy, Sensorineural hearing impairment, Hypodontia, Enamel h...	OMIM:616029
Microtia, Hearing Impairment, And Cleft Palate	Stenosis of the external auditory canal, Increased incisura length, Mixed hearing impairment, Ove...	OMIM:612290
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Coni...	OMIM:602400
Brachydactyly, Type E2	Short stature, Delayed eruption of teeth, Oligodontia	OMIM:613382
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization	OMIM:613211
Intellectual Disability And Myopathy Syndrome	Dental malocclusion, Widely-spaced maxillary central incisors, Thin upper lip vermilion, Spotty h...	OMIM:619719
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Zimmermann-Laband Syndrome	Facial hypertrichosis, Large fleshy ears, Micrognathia, Sensorineural hearing impairment, Thicken...	ORPHA:3473
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Nail dysplasia, Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth	OMIM:615887
Coxoauricular Syndrome	Short stature, Hearing impairment, Microtia	OMIM:122780
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Branchial fistula, Retrognathia, Cupped ear, Sen...	OMIM:602588
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse eyebrow, Sparse scalp hair, Natal tooth, Oligodontia, Sparse eyelashes, Hypodontia, Hypopl...	OMIM:601345
Marbach-Rustad Progeroid Syndrome	Eruption failure, Intrauterine growth retardation, Micrognathia, Narrow mouth, Delayed eruption o...	OMIM:619322
Angel-Shaped Phalango-Epiphyseal Dysplasia	Short stature, Hypodontia, Delayed eruption of teeth	ORPHA:63442
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Conductive hearing impairment, Micrognathia, Short stature, High palate, Microtia	OMIM:248910
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Orofacial cleft, Short man...	OMIM:141400
Brittle Cornea Syndrome 1	Red hair, Dentinogenesis imperfecta, Hearing impairment	OMIM:229200
Otodental Syndrome	Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo...	ORPHA:2791
Osteogenesis Imperfecta, Type V	Short stature, Dentinogenesis imperfecta	OMIM:610967
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta, Disproportionate short-limb short stature	OMIM:259440
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Natal tooth, Abnormal mandible morphology	OMIM:217150
Intellectual Disability, Buenos-Aires Type	Dental malocclusion, Fine hair, Open bite, Abnormal dental morphology, Abnormal fingernail morpho...	ORPHA:3079
Oculodentodigital Dysplasia, Autosomal Recessive	Low-set ears, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dent...	OMIM:257850
Alpha-Mannosidosis	Craniofacial hyperostosis, Abnormal helix morphology, Dental malocclusion, Hearing impairment, Wi...	ORPHA:61
Ohdo Syndrome	Sparse eyebrow, Hearing impairment, Long philtrum, Widely spaced teeth, Stenosis of the external ...	OMIM:249620
Intellectual Disability, Birk-Barel Type	High, narrow palate, Highly arched eyebrow, Micrognathia, Open mouth, Tented upper lip vermilion,...	ORPHA:166108
Short Stature-Wormian Bones-Dextrocardia Syndrome	Low-set ears, Delayed eruption of teeth, Tooth agenesis, Long eyelashes, Micrognathia, Abnormalit...	ORPHA:2863
Eiken Syndrome	Eruption failure, Thick lower lip vermilion, Persistence of primary teeth, Multiple impacted teet...	OMIM:600002
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv...	OMIM:618729
Mulibrey Nanism	Pigmentary retinopathy, Microglossia, Dental malocclusion, Dental crowding, Intrauterine growth r...	OMIM:253250
Tooth Agenesis, Selective, 9	Taurodontia, Selective tooth agenesis, Microdontia	OMIM:617275
Pyle Disease	Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,...	OMIM:265900
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Amelogenesis Imperfecta, Type Iiib	Amelogenesis imperfecta, Enamel hypomineralization	OMIM:617607
Epidermolysis Bullosa, Junctional 1B, Severe	Nail dysplasia, Carious teeth, Enamel hypoplasia, Nail dystrophy	OMIM:226700
Aredyld Syndrome	Craniofacial hyperostosis, Sparse body hair, Abnormal dental enamel morphology, Low-set, posterio...	ORPHA:1133
Developmental Delay, Dysmorphic Facies, And Brain Anomalies	Low-set ears, Retrognathia, Thick eyebrow, Deep philtrum, Mandibular prognathia, Microtia	OMIM:620535
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Micrognathia, Thin nail, Macrotia, Leukonychia, Thin upper lip vermilion, Protrudi...	OMIM:190350
Tietz Syndrome	Hypopigmentation of the skin, Hearing impairment, White eyebrow, Abnormality of skin pigmentation...	ORPHA:42665
Isotretinoin Syndrome	Abnormality of the outer ear, Micrognathia, Hypoplastic toenails, Cleft palate, Microtia	ORPHA:2305
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Low-set ears, Highly arched eyebrow, Dental crowding, Retrognathia, Thick lower lip vermilion, Pe...	OMIM:618342
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Bifid uvula, Sparse eyebrow, Stenosis of the external auditory canal, Micrognathia, Sensorineural...	OMIM:606164
Coffin-Siris Syndrome 2	Hearing impairment, Small nail, High palate, Abnormal pinna morphology, Long eyelashes, Low anter...	OMIM:614607
Treacher Collins Syndrome 3	Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, ...	OMIM:248390
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia	ORPHA:3196
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Cupped ear, Hearing impairment, Widely spaced teeth, Absent eyelashes, Enamel hypo...	OMIM:620193
Alopecia Antibody Deficiency	Conductive hearing impairment, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormality o...	ORPHA:1006
Dental Ankylosis	Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis	ORPHA:1077
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Nail dystrophy, Nail dysplasia, Scarring alopecia of scalp, Enamel hypoplasia, Sho...	OMIM:226670
Kabuki Syndrome 2	Low-set ears, Highly arched eyebrow, Natal tooth, Dental malocclusion, Hearing impairment, Macrot...	OMIM:300867
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Conductive hearing impairment, Atresia of the external auditory canal, Micrognathia, Sparse eyela...	OMIM:300946
Lacrimoauriculodentodigital Syndrome 2	Conical tooth, Carious teeth, Cupped ear, Hearing impairment, Microdontia, Hypodontia, Microtia	OMIM:620192
Eem Syndrome	Carious teeth, Selective tooth agenesis, Widely spaced teeth, Sparse body hair, Abnormal dental m...	ORPHA:1897
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Long philtrum, Narrow mouth, Malar flattening, Short stature, Thickene...	ORPHA:261295
Odontomicronychial Dysplasia	Slow-growing nails, Short nail, Premature eruption of permanent teeth, Thin nail	OMIM:601319
Acrootoocular Syndrome	High, narrow palate, Low-set ears, Dental malocclusion, Delayed eruption of teeth, Atresia of the...	ORPHA:2980
Atelis Syndrome 1	Carious teeth, Irregular hyperpigmentation, Long philtrum, Glue ear, High palate, Cafe-au-lait sp...	OMIM:620184
Cherubism	Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin...	OMIM:118400
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Enla...	ORPHA:79414
Naegeli-Franceschetti-Jadassohn Syndrome	Fragile nails, Carious teeth, Reticular hyperpigmentation, Premature loss of teeth	OMIM:161000
6Q16 Microdeletion Syndrome	Low-set ears, Retrognathia, Micrognathia, Thick eyebrow, Abnormal ear morphology, Microtia	ORPHA:171829
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	High palate, Dental malocclusion, Mandibular prognathia	OMIM:608931
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Abn...	ORPHA:3145
Parenti-Mignot Neurodevelopmental Syndrome	Low-set ears, Cupped ear, Micrognathia, Synophrys, Short philtrum, Posteriorly rotated ears, Micr...	OMIM:619873
Short Stature, Dauber-Argente Type	Short stature, Postnatal growth retardation, Delayed eruption of teeth	OMIM:619489
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Sparse lateral eyebrow, Thick vermilion border	ORPHA:363523
Immunodeficiency 33	Hypodontia, Conical tooth, Delayed eruption of teeth	OMIM:300636
Blepharophimosis-Impaired Intellectual Development Syndrome	Low-set ears, Highly arched eyebrow, Sparse eyebrow, Dental malocclusion, Widely spaced teeth, Lo...	OMIM:619293
Short Stature And Facioauriculothoracic Malformations	Low-set ears, Cupped ear, Cleft upper lip, Proportionate short stature, Overfolded helix, High pa...	OMIM:609654
Fanconi Anemia, Complementation Group S	Dental malocclusion, Thick upper lip vermilion, Macrodontia, Long eyelashes, Low anterior hairlin...	OMIM:617883
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Trisomy 4P	Abnormality of the dentition, Carious teeth, Low-set, posteriorly rotated ears, Thick eyebrow, Ab...	ORPHA:1738
Rapp-Hodgkin Syndrome	Carious teeth, Velopharyngeal insufficiency, Hearing impairment, Small nail, Recurrent otitis med...	OMIM:129400
Muenke Syndrome	Dental malocclusion, Hearing impairment, Recurrent otitis media, Malar flattening, Sensorineural ...	OMIM:602849
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormality of the outer ear, Hearing impairment, Widely spaced teeth, Recurrent otitis media, Po...	ORPHA:2728
Böök Syndrome	Abnormality of the dentition, Premature graying of hair, Hypoplastic fingernail, Abnormal eyebrow...	ORPHA:1262
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Iris hypopigmentation, Delayed eruption of teeth, Hypopigmented skin patches...	ORPHA:3214
Endosteal Hyperostosis, Autosomal Dominant	Torus palatinus, Dental malocclusion, Sensorineural hearing impairment	OMIM:144750
Temple-Baraitser Syndrome	Everted upper lip vermilion, Open mouth, Absent toenail, Everted lower lip vermilion, High palate...	ORPHA:420561
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Retrognathia, Long philtrum, Hearing impairment, Fine hair, Long eyelashes, Microg...	OMIM:620250
Gapo Syndrome	High, narrow palate, Alopecia, Sparse eyebrow, Eruption failure, Long philtrum, Thick lower lip v...	OMIM:230740
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Familial Osteodysplasia, Anderson Type	Tooth malposition, Carious teeth, Failure of eruption of permanent teeth, Abnormal earlobe morpho...	ORPHA:2769
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Micrognathia, High palate, Wide mouth, Cleft palate, Microtia	ORPHA:1703
Teeth Present At Birth	Natal tooth	OMIM:187050
Osteogenesis Imperfecta, Type Xiii	Dentinogenesis imperfecta, Hearing impairment, Long philtrum, Long eyelashes, Protruding ear, Gen...	OMIM:614856
Potocki-Lupski Syndrome	Mandibular prognathia, Dental malocclusion, Dental crowding, Hearing impairment, Micrognathia, Sm...	OMIM:610883
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Low-set ears, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Posteriorly rotated e...	OMIM:618506
Postaxial Acrofacial Dysostosis	Cupped ear, Conductive hearing impairment, Supernumerary nipple, Low-set, posteriorly rotated ear...	ORPHA:246
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Carious teeth, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Nail dysplasia, Scarri...	OMIM:612843
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Long philtrum, Recurrent otitis media, Micrognathia, Thick eyebrow, Oligodontia, Smooth philtrum,...	OMIM:602562
Larsen-Like Syndrome	Low-set ears, Dental malocclusion, Conductive hearing impairment, Recurrent otitis media, Malar f...	OMIM:608545
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Nail dystrophy, Oral mucosal blisters, Anonychia, Abnormality of skin pigmentation...	ORPHA:79411
Coffin-Siris Syndrome 3	Sparse scalp hair, Hearing impairment, Long philtrum, Hypertrichosis, Delayed eruption of permane...	OMIM:614608
Otopalatodigital Syndrome, Type I	Conductive hearing impairment, Selective tooth agenesis, Narrow mouth, Malar flattening, Multiple...	OMIM:311300
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Abnormality of the dentition, Microretrognathia, Low-set, posteriorly rotated ears, Delayed puber...	ORPHA:2994
Three M Syndrome 2	Severe short stature, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Intrauterine...	OMIM:612921
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormality of the dentition, Subungual hyperkeratosis, Carious teeth, Yellow-brown discoloration...	ORPHA:69087
Ectodermal Dysplasia With Adrenal Cyst	Breast hypoplasia, Hypoplastic nipples, Delayed eruption of teeth, Nail dysplasia	OMIM:129550
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Multiple rows of eyelashes, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, ...	ORPHA:163654
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Low-set ears, Toenail dysplasia, Dental crowding, Conductive hearing impairment, Long philtrum, T...	OMIM:617877
Temtamy Preaxial Brachydactyly Syndrome	Highly arched eyebrow, Diastema, Microdontia, Deep philtrum, Talon cusp, Bilateral sensorineural ...	OMIM:605282
Paganini-Miozzo Syndrome	Low-set ears, Downturned corners of mouth, Malar flattening, Posteriorly rotated ears, Thin vermi...	OMIM:301025
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo...	OMIM:157980
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Low-set ears, Bifid uvula, Cleft lip, Downturned corners of mouth, Long philtrum, Long eyelashes,...	OMIM:618089
Lessel-Kreienkamp Syndrome	Hypoplastic helices, Dental malocclusion, Hearing impairment, Open mouth, Thin upper lip vermilio...	OMIM:619149
Even-Plus Syndrome	Severe short stature, Highly arched eyebrow, Hypodontia, Synophrys, High palate, Sparse hair, Mic...	OMIM:616854
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Microretrognathia, Hearing impairment, Disproportionate short stature, Tooth agene...	OMIM:618363
Isotretinoin Embryopathy-Like Syndrome	Anotia, Micrognathia, Cleft palate, Microtia	OMIM:243440
Heimler Syndrome 2	Dental crowding, Leukonychia, Sensorineural hearing impairment, Amelogenesis imperfecta, Beau's l...	OMIM:616617
Nance-Horan Syndrome	Diastema, Supernumerary maxillary incisor, Mulberry molar, Screwdriver-shaped incisors, Macrotia	OMIM:302350
Difference Of Sex Development-Intellectual Disability Syndrome	Downturned corners of mouth, Low-set, posteriorly rotated ears, Low posterior hairline, Abnormal ...	ORPHA:2983
Beaulieu-Boycott-Innes Syndrome	High anterior hairline, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Microgn...	OMIM:613680
Braddock-Carey Syndrome 1	Growth delay, Macrotia, Curly hair, Enamel hypoplasia, Everted lower lip vermilion, Thick vermili...	OMIM:619980
Oliver Syndrome	Dental malocclusion, Supernumerary nipple, Hyperconvex fingernails, Intrauterine growth retardati...	ORPHA:2920
Elsahy-Waters Syndrome	Low-set ears, Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of te...	OMIM:211380
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, Coarse hair, Delayed eruption of teeth, Long philtrum, ...	ORPHA:50814
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Hearing i...	ORPHA:189
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Hearing impairment, Thick eyebrow, Microdontia, Thin upper lip vermili...	OMIM:619736
Recon Progeroid Syndrome	Dental crowding, Growth delay, Hyperconvex thumb nails, Prominence of the premaxilla, Hirsutism, ...	OMIM:620370
Temtamy Preaxial Brachydactyly Syndrome	Low-set ears, Tooth malposition, Abnormality of canine, Hypoplasia of the maxilla, Abnormality of...	ORPHA:363417
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	High palate, Enamel hypoplasia, Retrognathia	OMIM:617915
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Neonatal short-limb short stature, Disproportionate short-limb short s...	OMIM:259420
Harrod Syndrome	Dental malocclusion, Hypopigmented skin patches, Intrauterine growth retardation, Narrow mouth, P...	ORPHA:2115
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Short stature, Hypopigmentation of hair, Partial albinism	ORPHA:90023
Tetrasomy 12P	Sparse eyebrow, Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick uppe...	ORPHA:884
Nager Syndrome	Sparse lower eyelashes, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hearing impa...	ORPHA:245
Cole-Carpenter Syndrome 2	Dentinogenesis imperfecta, Microretrognathia, Postnatal growth retardation, Short stature, High p...	OMIM:616294
Meier-Gorlin Syndrome 4	Low-set ears, Hypoplasia of the maxilla, Thick lower lip vermilion, Breast hypoplasia, Intrauteri...	OMIM:613804
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Natal tooth, Oral leukoplakia, Sparse eyebrow, Nail dystrophy...	OMIM:167210
Dentin Dysplasia	Abnormal dental enamel morphology, Abnormal dental morphology	ORPHA:1653
Odontochondrodysplasia 1	Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum, Mesomelic short stature, Sho...	OMIM:184260
Stimmler Syndrome	Abnormal dental enamel morphology, Intrauterine growth retardation, Short stature, Microdontia	ORPHA:3199
Craniosynostosis, Herrmann-Opitz Type	Intrauterine growth retardation, Micrognathia, Abnormal antihelix morphology, Malar flattening, S...	ORPHA:2145
Cole-Carpenter Syndrome 1	Short stature, Dentinogenesis imperfecta, Micrognathia, Microdontia	OMIM:112240
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Thick lower lip vermilion, Thick upper lip vermilion, Postnatal growth retardation, Wide mouth, M...	OMIM:309545
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Low-set ears, Abnormality of the dentition, Dental malocclusion, Thick lower lip vermilion, Micro...	ORPHA:85321
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Low-set ears, Hypoplastic fifth toenail, Highly arched eyebrow, Growth delay, Delayed eruption of...	OMIM:615866
Odontoonychodermal Dysplasia	Sparse eyebrow, Dry hair, Short nail, Smooth tongue, Widely spaced primary teeth, Sparse body hai...	OMIM:257980
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Prelingual sensorineural hearing impairment, Delayed eruption of teeth, Congenital sensorineural ...	ORPHA:73272
Barber-Say Syndrome	Low-set ears, Velopharyngeal insufficiency, Hearing impairment, Micrognathia, Sparse eyelashes, H...	OMIM:209885
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Micrognathia, Hig...	ORPHA:476126
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ...	OMIM:618727
Hall-Riggs Syndrome	Coarse hair, Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morph...	ORPHA:2107
Distal Deletion 17Q	Aplasia/Hypoplasia of the uvula, Low-set, posteriorly rotated ears, Melanocytic nevus, Narrow mou...	ORPHA:1597
Seckel Syndrome 1	Low-set ears, Dental malocclusion, Dental crowding, Selective tooth agenesis, Postnatal growth re...	OMIM:210600
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Supernumerary nipple, Micrognathia, Sparse eyelashes, Sparse hair, Non-midline cleft of the upper...	ORPHA:1071
Bazex-Dupré-Christol Syndrome	Hypoplasia of the ear cartilage, Sparse eyebrow, Coarse hair, Macrotia, Trichorrhexis nodosa, Spa...	ORPHA:113
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Frontal upsweep of hai...	OMIM:619797
Microtia With Meatal Atresia And Conductive Deafness	Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Wide mouth, Microtia	OMIM:251800
Hypertelorism-Microtia-Facial Clefting Syndrome	Severe short stature, Conductive hearing impairment, Atresia of the external auditory canal, Medi...	ORPHA:2213
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Hypoplastic thumbnail, Hypoplastic fingernail, Hypoplastic fifth fingernail, Micrognathia, Open m...	OMIM:619356
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Low-set ears, Sparse eyebrow, Natal tooth, Micrognathia, Hypoplastic toenails, Sparse eyelashes, ...	OMIM:616901
Hall-Riggs Syndrome	Thick lower lip vermilion, Intrauterine growth retardation, Hypoplasia of the primary teeth, Enam...	OMIM:234250
Noonan Syndrome 4	Low-set ears, Sparse eyebrow, High anterior hairline, Dental malocclusion, Curly hair, Posteriorl...	OMIM:610733
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, Congenital sensorineural hea...	OMIM:619947
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Natal tooth, Sparse lateral eyebrow, Trichorrhexis nodosa, Nail dystrop...	OMIM:617337
Pycnodysostosis	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Disp...	ORPHA:763
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Hearing impairment, Narrow mouth, Irregular dentition, Growth delay, Microtia	OMIM:616006
Oculoauriculofrontonasal Syndrome	Cleft lip, Conductive hearing impairment, Micrognathia, Narrow mouth, Broad philtrum, Cleft palat...	ORPHA:398156
Hypotrichosis 8	Abnormality of the dentition, Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Spar...	OMIM:278150
Pitt-Hopkins Syndrome	Tooth malposition, Abnormal helix morphology, Failure of eruption of permanent teeth, Growth dela...	ORPHA:2896
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Hypodontia, Short stature, High pala...	OMIM:612350
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Maxi...	OMIM:300602
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Dentinogenesis imperfecta, Periodontitis, Retrognathia, Growth delay, Sensorineural hearing impai...	OMIM:619269
Osteogenesis Imperfecta, Type Iv	Short stature, Dentinogenesis imperfecta, Otosclerosis, Hearing impairment	OMIM:166220
Branchioskeletogenital Syndrome	Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Abnormality of the dentition, Downturned c...	ORPHA:1299
Orofacial Cleft 15	Low-set ears, Sparse eyebrow, High anterior hairline, Palate fistula, Bilateral cleft palate, Pro...	OMIM:616788
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Intrauterine growth retardation, Enamel hypoplasia, Downturned corners of m...	ORPHA:2643
Sjogren-Larsson Syndrome	Short stature, Abnormal hair morphology, Enamel hypoplasia, Abnormality of the nail	OMIM:270200
Intermediate Osteopetrosis	Abnormality of the dentition, Dental malocclusion, Abnormal dental morphology, Osteosclerosis of ...	ORPHA:210110
Oculoauriculovertebral Spectrum With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Sensorineural hearing impa...	ORPHA:2549
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Fine hair, Tooth agenesis, Sparse lateral eyebrow, Abnormal dental mor...	ORPHA:3353
Osteogenesis Imperfecta, Type Vi	Dentinogenesis imperfecta, Hearing impairment	OMIM:613982
Robinow Syndrome, Autosomal Dominant 2	Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Hearing impair...	OMIM:616331
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Low-set ears, Everted upper lip vermilion, Hearing impairment, Widely spaced teeth, Short stature...	OMIM:619056
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Hearing impairment, Widely spaced teeth, Aplasia of the inner ear, Micrognathia, M...	ORPHA:90024
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Low-set ears, Microretrognathia, Carious teeth, Dental malocclusion, Cupped ear, Mixed hearing im...	OMIM:615560
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Atresia of the external auditory canal, Low-set, posteriorly rotated ears, Abnormal hair pattern,...	ORPHA:1770
Osteogenesis Imperfecta, Type Xi	Short stature, Dentinogenesis imperfecta, Hearing impairment	OMIM:610968
Lowry-Maclean Syndrome	High, narrow palate, Low-set ears, Hypoplasia of the maxilla, Generalized hypertrichosis, Downtur...	ORPHA:2409
Taurodontism	Taurodontia	OMIM:272700
Distal Xq28 Microduplication Syndrome	Hypoplasia of the maxilla, Dental crowding, Thick lower lip vermilion, Absent antihelix, Open mou...	ORPHA:293939
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Natal tooth, Oral leukoplakia, Onychogryposis of toenails...	ORPHA:2309
X-Linked Intellectual Disability, Van Esch Type	Short stature, Intrauterine growth retardation, Retrognathia, Microtia	ORPHA:163976
Cerebellofaciodental Syndrome	Low-set ears, Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Dental malocclu...	OMIM:616202
Intellectual Developmental Disorder, Autosomal Dominant 43	Gingival overgrowth, Narrow mouth, Increased overbite, Thin upper lip vermilion, Short philtrum, ...	OMIM:616977
Seckel Syndrome 5	Low-set ears, Retrognathia, Selective tooth agenesis, Micrognathia, Oligodontia, Hypodontia, Enam...	OMIM:613823
Tricho-Retino-Dento-Digital Syndrome	Sparse hair, Abnormality of the dentition, Abnormality of retinal pigmentation, Oligodontia, Unco...	ORPHA:1264
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Bent Bone Dysplasia Syndrome 1	Low-set ears, Natal tooth, Micrognathia, Gingival overgrowth, Malar flattening, Hirsutism	OMIM:614592
Sulfite Oxidase Deficiency, Isolated	Fine hair, Delayed eruption of teeth, Macrotia	OMIM:272300
Lethal Acantholytic Erosive Disorder	Abnormal helix morphology, Natal tooth, Congenital alopecia totalis, Absent hair, Intrauterine gr...	ORPHA:158687
Cri-Du-Chat Syndrome	Low-set ears, Bifid uvula, Microretrognathia, Downturned corners of mouth, Hearing impairment, Th...	OMIM:123450
Kohlschutter-Tonz Syndrome	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:226750
Pseudopseudohypoparathyroidism	Short stature, Enamel hypoplasia, Delayed eruption of teeth	OMIM:612463
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Carious teeth, Premature graying of hair, Open bite, Low-set, posteriorly r...	ORPHA:2617
Tooth Agenesis, Selective, 4	Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Tooth agenesis, Peg-shaped maxillary later...	OMIM:150400
Osteoglophonic Dysplasia	Low-set ears, Severe short stature, Hypoplasia of the maxilla, Rhizomelia, Growth delay, Delayed ...	OMIM:166250
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Low-set ears, Fine hair, High-frequency sensorineural hearing impairment, Postnatal growth retard...	ORPHA:2324
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Ectopic tooth eruption	OMIM:606893
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te...	OMIM:618067
Weiss-Kruszka Syndrome	Low-set ears, Highly arched eyebrow, Cupped ear, Hearing impairment, Horizontal crus of helix, Hy...	OMIM:618619
Hypertelorism, Microtia, Facial Clefting Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Cleft upper lip, Micrognat...	OMIM:239800
Proximal 16P11.2 Microduplication Syndrome	Sparse eyebrow, Abnormality of the hairline, Sparse eyelashes, Thin upper lip vermilion, Smooth p...	ORPHA:370079
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypertrichosis, Advanced eruption of teeth, Onychauxis, Short stature, High palate, Mandibular pr...	OMIM:262190
Nabais Sa-De Vries Syndrome, Type 2	Low-set ears, Sparse eyebrow, Micrognathia, Bilateral cleft palate, Protruding ear, Bilateral cle...	OMIM:618829
Weismann-Netter Syndrome	Severe short stature, Delayed eruption of permanent teeth	OMIM:112350
Hamamy Syndrome	Low-set ears, Sparse eyebrow, Dental malocclusion, Sparse lateral eyebrow, Long philtrum, Abnorma...	OMIM:611174
Dental Anomalies And Short Stature	Hypoplasia of the maxilla, Widely spaced teeth, Hypertrichosis, Oligodontia, Microdontia, Ameloge...	OMIM:601216
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Highly arched eyebrow, Dental crowding, Delayed eruption of teeth, Long philtrum, High palate, Wi...	OMIM:618825
Chanarin-Dorfman Syndrome	Alopecia, Microtia, Everted lower lip vermilion, Sensorineural hearing impairment	OMIM:275630
Trichothiodystrophy 3, Photosensitive	Low-set ears, Carious teeth, Natal tooth, Hearing impairment, Trichorrhexis nodosa, Intrauterine ...	OMIM:616395
Chromosome 4Q21 Deletion Syndrome	Severe short stature, Downturned corners of mouth, Long philtrum, Postnatal growth retardation, N...	OMIM:613509
Verloove Vanhorick-Brubakk Syndrome	Low-set ears, Atresia of the external auditory canal, Micrognathia, Non-midline cleft of the uppe...	ORPHA:3429
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Breast aplasia, Underdeveloped tragus, A...	ORPHA:2036
Aarskog-Scott Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, High anterior hairline, Delayed eruption...	ORPHA:915
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Carious teeth, Hearing impairment, Thick lower lip vermilion, Low-set, posteri...	ORPHA:2701
Waardenburg Syndrome Type 1	Hearing impairment, Cleft upper lip, Hypopigmented skin patches, Abnormal hair morphology, Congen...	ORPHA:894
Schilbach-Rott Syndrome	Bifid uvula, Micrognathia, Narrow mouth, Submucous cleft hard palate, Short stature, Posteriorly ...	OMIM:164220
Pycnodysostosis	Carious teeth, Persistence of primary teeth, Micrognathia, Ridged nail, Delayed eruption of prima...	OMIM:265800
Familial Adenomatous Polyposis 1	Carious teeth, Eruption failure, Hyperpigmentation of the skin, Odontoma, Supernumerary tooth	OMIM:175100
Spinocerebellar Ataxia, Autosomal Recessive 20	Dental crowding, Delayed eruption of teeth, Long philtrum, Hearing impairment, Hypertrichosis, Se...	OMIM:616354
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Low-set ears, Abnormality of the dentition, Abnormality of the outer ear, Dental malocclusion, De...	ORPHA:251028
Hypothyroidism, Congenital, Nongoitrous, 6	Macroglossia, Growth delay, Delayed eruption of teeth	OMIM:614450
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, High anterior hairline, Carious teeth, Dental malocclusion, Velopha...	ORPHA:363444
Oculoskeletodental Syndrome	Abnormality of the dentition, Conductive hearing impairment, Retrognathia, Hearing impairment, Ab...	ORPHA:557003
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth	OMIM:615905
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Horizontal eyebrow, Hearing impairment, Long eyelashes, Wide mouth, Thin upper lip vermilion, Bro...	OMIM:620475
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis, Sensorineural hearing impairment	OMIM:600193
Intellectual Developmental Disorder, Autosomal Dominant 1	Low-set ears, Postnatal growth retardation, Micrognathia, Open mouth, Low posterior hairline, Eve...	OMIM:156200
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m...	ORPHA:364028
Tooth Agenesis, Selective, 3	Oligodontia of primary teeth, Abnormal fingernail morphology, Abnormal hair morphology, Agenesis ...	OMIM:604625
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Coarse hair, Sensorineural hearing impairment, Brittle hair, Short stature, Sparse...	ORPHA:1883
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Carious teeth, Conductive hearing impairment, Bilateral cleft palate, Distichiasis...	ORPHA:1997
Microcephaly 6, Primary, Autosomal Recessive	Microtia	OMIM:608393
Laron Syndrome	Severe short stature, Delayed eruption of teeth, Tooth agenesis, Micrognathia, Microdontia, Delay...	ORPHA:633
Cockayne Syndrome Type 2	Hearing impairment, Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of t...	ORPHA:90322
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Short stature, Delayed eruption of teeth	ORPHA:2238
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyebrow, Ankyloglossia, Alopecia of scalp, Malar flattening, Bilateral cleft palate, Thin ...	OMIM:618874
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Protruding ear, Thick verm...	ORPHA:137834
Cerebellar-Facial-Dental Syndrome	Low-set ears, Macrodontia of permanent maxillary central incisor, Infancy onset short-trunk short...	ORPHA:444072
Chromosome 1Q41-Q42 Deletion Syndrome	Low-set ears, Sparse eyebrow, Small nail, Cleft upper lip, Widely spaced teeth, Supernumerary nip...	OMIM:612530
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Micrognathia, Microtia	ORPHA:2547
Progeria-Short Stature-Pigmented Nevi Syndrome	Bifid uvula, Alopecia, Dental malocclusion, Progressive sensorineural hearing impairment, Selecti...	ORPHA:2959
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Hearing impairment, Thick vermili...	OMIM:620114
Short Syndrome	Low-set ears, Dental malocclusion, Delayed eruption of teeth, Downturned corners of mouth, Intrau...	OMIM:269880
Van Maldergem Syndrome 2	Hypoplasia of the maxilla, High anterior hairline, Dental malocclusion, Downturned corners of mou...	OMIM:615546
Brachycephaly, Trichomegaly, And Developmental Delay	Low-set ears, Bifid uvula, Highly arched eyebrow, Conductive hearing impairment, Thick lower lip ...	OMIM:617412
Branchiootorenal Syndrome 1	Bifid uvula, Dilatated internal auditory canal, Branchial fistula, Branchial cyst, Cupped ear, Co...	OMIM:113650
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Martin-Probst Syndrome	Low-set ears, Dental malocclusion, Thick lower lip vermilion, Micrognathia, Malar flattening, Sen...	OMIM:300519
Distal Deletion 9P	High, narrow palate, Abnormality of the dentition, Abnormal helix morphology, Aplasia/Hypoplasia ...	ORPHA:1642
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
48,Xyyy Syndrome	Long philtrum, Thick lower lip vermilion, Enamel hypoplasia, Irregularly spaced teeth, High palate	ORPHA:99329
Treacher Collins Syndrome 2	Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of the zygomatic bone,...	OMIM:613717
Meier-Gorlin Syndrome 5	Low-set ears, Hypoplasia of the maxilla, Long philtrum, Intrauterine growth retardation, Microgna...	OMIM:613805
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Low-set ears, Long philtrum, Micrognathia, Malar flattening, Thin vermilion border, Microtia	ORPHA:171839
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Natal tooth, Alopecia totalis, Anonychia, Absent fingernail	OMIM:609638
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Low-set ears, Severe short stature, Intrauterine growth retardation, Micrognathia, Cafe-au-lait s...	OMIM:618336
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Micrognathia, High palate, Peg-shaped maxillary latera...	ORPHA:2751
Femoral-Facial Syndrome	Low-set ears, Long philtrum, Micrognathia, Thin upper lip vermilion, Orofacial cleft, Short statu...	ORPHA:1988
Craniometadiaphyseal Dysplasia	Low-set ears, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Malar flatte...	OMIM:269300
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
19P13.3 Microduplication Syndrome	Low-set ears, Growth delay, Intrauterine growth retardation, Micrognathia, Narrow mouth, Thick ve...	ORPHA:447980
Cardiofaciocutaneous Syndrome 1	Low-set ears, Hearing impairment, Open bite, Micrognathia, Open mouth, Absent eyelashes, Low post...	OMIM:115150
Sweeney-Cox Syndrome	Low-set ears, Crumpled ear, Cupped ear, Velopharyngeal insufficiency, Hearing impairment, Small n...	OMIM:617746
Saethre-Chotzen Syndrome	Low-set ears, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Promi...	ORPHA:794
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Dental malocclusion, Micrognathia, Low anterior hairline, Thin upper lip vermilion, Deep philtrum...	ORPHA:329178
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Long philtrum, Abnormal dental...	ORPHA:2878
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Carious teeth, Oral leukoplakia, Intrauterine growth retardation, Nail dystrophy, Abnor...	OMIM:616353
Barber-Say Syndrome	Atresia of the external auditory canal, Delayed eruption of teeth, Hearing impairment, Breast apl...	ORPHA:1231
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	High anterior hairline, Dry hair, Cleft lip, Coarse hair, Nail dystrophy, Woolly scalp hair, Onyc...	OMIM:620519
Codas Syndrome	Crumpled ear, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental morph...	ORPHA:1458
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Low-set ears, Sparse hair, Natal tooth, Dental malocclusion, ...	OMIM:234100
Acrodysostosis 1 With Or Without Hormone Resistance	Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Hearing impairment, Di...	OMIM:101800
Mandibulofacial Dysostosis, Guion-Almeida Type	Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Micrognathia...	OMIM:610536
Tetraploidy	Hypoplasia of the ear cartilage, Intrauterine growth retardation, Micrognathia, Short philtrum, C...	ORPHA:3305
Meier-Gorlin Syndrome 2	Breast hypoplasia, Intrauterine growth retardation, Micrognathia, Narrow mouth, Smooth philtrum, ...	OMIM:613800
Cornelia De Lange Syndrome 2	Highly arched eyebrow, Downturned corners of mouth, Postnatal growth retardation, Intrauterine gr...	OMIM:300590
Van Maldergem Syndrome 1	Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, Atresia of the exter...	OMIM:601390
Myopathy, Myofibrillar, 8	High palate, Micrognathia, Dental malocclusion	OMIM:617258
Nestor-Guillermo Progeria Syndrome	Alopecia, Microretrognathia, Dental malocclusion, Dental crowding, Growth delay, Sparse eyebrow, ...	OMIM:614008
4H Leukodystrophy	Abnormality of the dentition, Delayed eruption of teeth, Hypodontia, Delayed puberty, Short stature	ORPHA:289494
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Low-set ears, Highly arched eyebrow, Retrognathia, Long philtrum, Hearing impairment, Aplasia/Hyp...	ORPHA:505237
Buratti-Harel Syndrome	Low-set ears, Bifid uvula, Velopharyngeal insufficiency, Small nail, Sparse medial eyebrow, Submu...	OMIM:619314
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Galloway-Mowat Syndrome 8	Enamel hypoplasia, Hearing impairment	OMIM:618349
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Carious teeth, Melanocytic nevus, Hypodontia, Delayed puberty, Short stature	OMIM:612079
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Amelogenesis imperfecta, Enamel hypoplasia, Nail dystrophy, Recurrent loss of toenails and finger...	OMIM:245660
Lelis Syndrome	Yellow nails, Carious teeth, Sparse lateral eyebrow, Furrowed tongue, Vitiligo, Perioral hyperpig...	ORPHA:140936
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, Postnatal growth retardation, Intrauterine growth reta...	OMIM:619184
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Hearing impairment, Proportionate short stature, Posteriorly rotated ears, D...	OMIM:227330
Gardner Syndrome	Abnormality of the dentition, Pilomatrixoma, Multiple unerupted teeth, Odontoma, Abnormality of s...	ORPHA:79665
Acrocraniofacial Dysostosis	Abnormality of the incus, Conductive hearing impairment, Low-set, posteriorly rotated ears, Abnor...	ORPHA:949
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Piebaldism	Hypopigmented skin patches, Hearing impairment, Long philtrum, White forelock, Heterochromia irid...	ORPHA:2884
Bosma Arhinia Microphthalmia Syndrome	Absent tragus, Cleft lip, Dental malocclusion, Atresia of the external auditory canal, Conductive...	OMIM:603457
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Diamond-Blackfan Anemia 10	Low-set ears, Conductive hearing impairment, Hearing impairment, Atresia of the external auditory...	OMIM:613309
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Abnormality of retinal pigmentation, Sensorineural hearin...	OMIM:272460
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Cenani-Lenz Syndactyly Syndrome	Micrognathia, Malar flattening, Hypodontia, Enamel hypoplasia, Anonychia, Premature loss of perma...	OMIM:212780
Cranioectodermal Dysplasia	Abnormality of the dentition, Rhizomelia, Abnormal dental enamel morphology, Abnormal fingernail ...	ORPHA:1515
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Crumpled ear, Cupped ear, Hearing impairment, Long philtrum, Small nail, Intrauterine growth reta...	OMIM:620494
Char Syndrome	Hearing impairment, Supernumerary nipple, Agenesis of permanent teeth, Persistence of primary tee...	ORPHA:46627
Jalili Syndrome	Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Abnormal...	ORPHA:1873
Takenouchi-Kosaki Syndrome	Low-set ears, Highly arched eyebrow, Sparse eyebrow, Dental malocclusion, Downturned corners of m...	OMIM:616737
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Wide mouth, Hypopigmentation of hair, Mandib...	ORPHA:411515
Coxoauricular Syndrome	Short stature, Atresia of the external auditory canal, Hearing impairment, Microtia	ORPHA:1508
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Micrognathia, Sparse eyelashes, Absent eyelashes, Absent eyebrow, High...	OMIM:268400
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Otosclerosis, Hearing impairment	OMIM:166200
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Cupped ear, Ocular albinism, Intrauterine growth retardation, Micrognathia, Hearing abnormality, ...	ORPHA:1352
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Hearing impairment, Premature graying of hair, White forelock, Sensor...	ORPHA:895
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, N...	OMIM:234050
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Disproportionate short stature, Areas of hypopigmentation and hyperpigmentation that do not follo...	OMIM:210720
21Q22.11Q22.12 Microdeletion Syndrome	Low-set ears, Dental crowding, Downturned corners of mouth, Small nail, Thick lower lip vermilion...	ORPHA:261323
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Rhizomelia, Conductive hearing impairment, Long philtrum, Stenosis of the external ...	OMIM:611209
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Carious teeth, Micrognathia, Bilateral cleft palate, Anodontia, Sparse hair, Macrotia, Alopecia, ...	ORPHA:3253
Osteogenesis Imperfecta, Type Xvii	Short stature, Dentinogenesis imperfecta, Hearing abnormality	OMIM:616507
Ayme-Gripp Syndrome	Low-set ears, Craniofacial asymmetry, Abnormality of the dentition, Hearing impairment, Long phil...	OMIM:601088
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala...	ORPHA:2250
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Low-set ears, Conductive hearing impairment, Delayed eruption of teeth, Retrognathia, Gingival ov...	OMIM:235510
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Sparse body hair, Abnormal dental enamel morphology, Oligodontia, Sparse eyelashe...	ORPHA:59303
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Abnormality of the dentition, Neonatal short-limb short stature,...	ORPHA:289
Treacher-Collins Syndrome	Open bite, Abnormal hair morphology, Micrognathia, Narrow mouth, Absent eyelashes, Abnormality of...	ORPHA:861
Cleidocranial Dysplasia	High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo...	ORPHA:1452
Localized Scleroderma	Abnormality of the dentition, Abnormal facial skeleton morphology, Dental malocclusion, Hypopigme...	ORPHA:90289
Oculofaciocardiodental Syndrome	Tooth malposition, Abnormality of the dentition, Highly arched eyebrow, Delayed eruption of teeth...	ORPHA:2712
X-Linked Hypophosphatemia	Disproportionate short stature, Sensorineural hearing impairment, Tooth abscess, Abnormal dentin ...	ORPHA:89936
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor, Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Isotretinoin-Like Syndrome	Atresia of the external auditory canal, Anotia, Postnatal growth retardation, Micrognathia, Intra...	ORPHA:2306
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormality of the dentition, High anterior hairline, Hearing impairment, Abnormality of nail col...	ORPHA:3220
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Microtia	OMIM:612138
48,Xxyy Syndrome	Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm...	ORPHA:10
Acitretin/Etretinate Embryopathy	Cupped ear, Micrognathia, Median cleft palate, Aplasia/Hypoplasia of the maxilla, Bilateral senso...	ORPHA:40366
Vitamin K Antagonist Embryofetopathy	Macroglossia, Intrauterine growth retardation, Hearing impairment, Microtia	ORPHA:1914
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Depigmentation/hyperpigmentation of skin, Dental malocclusion, Long ...	ORPHA:73223
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Microglossia, Hearing impairment, Small nail, Cleft mandible, Thin eyebrow...	ORPHA:364577
Amelocerebrohypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Abnormal dental enamel morphology, Amelogenesis imperfec...	ORPHA:1946
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Intrauterine growth retardation, Malar flattening, Blue irides, Red hair, Mandibular p...	OMIM:614613
Frontometaphyseal Dysplasia 1	Dental malocclusion, Delayed eruption of teeth, Selective tooth agenesis, Hearing impairment, Per...	OMIM:305620
Hutchinson-Gilford Progeria Syndrome	Prominent ear helix, Ankyloglossia, Alopecia totalis, Micrognathia, Short lingual frenulum, Narro...	ORPHA:740
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, High palate, ...	ORPHA:438216
Cerebrooculofacioskeletal Syndrome 1	Carious teeth, Delayed eruption of teeth, Long philtrum, Micrognathia, Sensorineural hearing impa...	OMIM:214150
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa...	OMIM:613265
Dysosteosclerosis	Craniofacial hyperostosis, Delayed eruption of teeth, Hearing impairment, Abnormal dental enamel ...	ORPHA:1782
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Microtia	OMIM:618158
Gapo Syndrome	Low-set ears, Early balding, Alopecia, Sparse eyebrow, Growth delay, Delayed eruption of teeth, L...	ORPHA:2067
Phelan-Mcdermid Syndrome	Toenail dysplasia, Dental malocclusion, Hearing impairment, Long philtrum, Widely spaced teeth, L...	OMIM:606232
Johanson-Blizzard Syndrome	Abnormality of the dentition, Alopecia, Delayed eruption of teeth, Intrauterine growth retardatio...	ORPHA:2315
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Narrow mouth, Nail dystrophy, Oral mucosal blisters, Nail dysplasia, Enamel hypoplasia,...	OMIM:226600
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Low-set ears, Abnormality of the dentition, Mandibular prognathia, Rhizomelia, Growth delay, Smal...	OMIM:614813
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin, Growth delay	OMIM:257800
Ohdo Syndrome, X-Linked	Low-set ears, Sparse eyebrow, High anterior hairline, Hearing impairment, Long philtrum, Widely s...	OMIM:300895
Pelvis-Shoulder Dysplasia	Microglossia, Facial hirsutism, Micrognathia, Mesomelic/rhizomelic limb shortening, Thick anterio...	ORPHA:2839
Congenital Disorder Of Deglycosylation 2	Highly arched eyebrow, Hearing impairment, Hamartoma of tongue, Micrognathia, Cleft earlobe, Macr...	OMIM:619775
Craniolenticulosutural Dysplasia	Bifid uvula, Forehead hyperpigmentation, Carious teeth, Coarse hair, Delayed eruption of teeth, L...	OMIM:607812
Chst3-Related Skeletal Dysplasia	Highly arched eyebrow, Rhizomelia, Sparse eyebrow, Delayed eruption of teeth, Long philtrum, Disp...	ORPHA:263463
Scalp-Ear-Nipple Syndrome	Low-set ears, Underdeveloped tragus, Sparse hair, Sparse pubic hair, Breast aplasia, Protruding e...	OMIM:181270
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, Hypoplasia of the ear cartilage, High palate, Short stature	ORPHA:1035
Sclerosteosis 1	Tooth malposition, Dental malocclusion, Hearing impairment, Facial palsy secondary to cranial hyp...	OMIM:269500
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Microtia	ORPHA:139450
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bifid uvula, Abnormality of the dentition, Highly arched eyebrow, Prominent antihelix, Low anteri...	OMIM:615802
Hajdu-Cheney Syndrome	Low-set ears, Short nail, Dental malocclusion, Conductive hearing impairment, Long philtrum, Larg...	OMIM:102500
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Low-set ears, Growth delay, Hearing impairment, Long philtrum, Breast hypoplasia, Long eyelashes,...	OMIM:601353
Robinow Syndrome	Low-set ears, Tooth malposition, Small nail, Ankyloglossia, Marked delay in eruption of permanent...	ORPHA:97360
Auriculocondylar Syndrome 2B	Question mark ear, Postnatal growth retardation, Micrognathia, Narrow mouth, Mandibular condyle h...	OMIM:620458
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Sensori...	OMIM:193510
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Nail dystrophy, Oral mucosal blisters, Nail dysplasia, Anonychia, Enamel hypoplasia	OMIM:226730
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ...	ORPHA:2919
Fg Syndrome Type 1	Dental crowding, Cupped ear, Long philtrum, Stenosis of the external auditory canal, Micrognathia...	ORPHA:93932
Marshall Syndrome	Low-set ears, Bifid uvula, Macrodontia of permanent maxillary central incisor, Long philtrum, Thi...	OMIM:154780
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