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Gene: Ambn MGI:104655

Gene Summary

Name:

ameloblastin

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage
abnormal skin morphology	Ambn^em1(IMPC)Mbp	HOM	Early adult
microphthalmia	Ambn^em1(IMPC)Mbp	HOM	Early adult
abnormal eye morphology	Ambn^em1(IMPC)Mbp	HOM	Early adult
small kidney	Ambn^em1(IMPC)Mbp	HOM	Early adult
abnormal kidney morphology	Ambn^em1(IMPC)Mbp	HOM	Early adult
enlarged kidney	Ambn^em1(IMPC)Mbp	HOM	Early adult

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

75 Images

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X-ray

XRay Images Whole Body Lateral Orientation

37 Images

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Human diseases caused by Ambn 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 Ambn (1 diseases)
Human diseases predicted to be associated with Ambn (915 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Amelogenesis Imperfecta, Type If		Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270

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

Disease	Matching phenotypes	Source
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology, Exostoses	ORPHA:1653
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition	ORPHA:1094
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Taurodontism	Taurodontia	OMIM:272700
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Osteomas Of Mandible	Osteoma, Abnormal mandible morphology	OMIM:166400
Trichodentoosseous Syndrome	Microdontia, Taurodontia, Widely spaced teeth	OMIM:190320
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Scarring alopecia of scalp, Dental enamel pits	OMIM:619787
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Steatocystoma Multiplex With Natal Teeth	Steatocystoma multiplex, Natal tooth	OMIM:184510
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	ORPHA:3352
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Atrophic scars, Basal cell carcino...	ORPHA:79405
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
17Q11.2 Microduplication Syndrome	Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79402
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Atrophic scars, Enamel hypoplasia	OMIM:226700
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Atrophic scars, Basal cell carcino...	ORPHA:79406
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca...	ORPHA:251393
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture	OMIM:203550
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Oropharyngeal squamous cell carcinoma, Carious teeth, Breast carcinoma, Conical incisor, Actinic ...	OMIM:614564
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Atrophic scars, Basal cell carcino...	ORPHA:79411
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth	ORPHA:248
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Atkin-Flaitz Syndrome	Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor...	ORPHA:1193
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Hall-Riggs Syndrome	Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape...	OMIM:234250
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious...	OMIM:618363
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue	OMIM:226670
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Usher Syndrome Type 2	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:231178
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Enamel hypoplasia	ORPHA:2643
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
48,Xyyy Syndrome	Thick lower lip vermilion, Irregularly spaced teeth, High palate, Long philtrum, Enamel hypoplasia	ORPHA:99329
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612463
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma...	ORPHA:166108
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v...	ORPHA:1515
Rubinstein-Taybi Syndrome 2	Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas...	OMIM:613684
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate	ORPHA:3019
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla...	OMIM:619719
Filippi Syndrome	Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors	OMIM:272440
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Recessive Dystrophic Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Atrophic scars, Basal cell carcino...	ORPHA:79409
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Seckel Syndrome 5	Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename...	OMIM:613823
Mulibrey Nanism	Dental crowding, Nephroblastoma, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malo...	OMIM:253250
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti...	ORPHA:69087
Ectodermal Dysplasia-Syndactyly Syndrome 1	Enamel hypoplasia, Widely spaced teeth, Conical tooth	OMIM:613573
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide...	OMIM:300602
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia	OMIM:615502
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia	OMIM:612843
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Atypical scarring of skin, Atrophi...	ORPHA:79410
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor	OMIM:302350
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia	OMIM:212780
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphology, Open bi...	ORPHA:10
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Meckel Syndrome, Type 8	Anophthalmia, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic kidneys, Enlarged kidney	OMIM:613885
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Pulp calcification, Taurodontia, Enamel hypoplasia	OMIM:211900
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:3145
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Eem Syndrome	Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo...	ORPHA:1897
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Enamel hypoplasia, Widely spaced teeth	OMIM:620193
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology	ORPHA:59303
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypoplasia of teeth	OMIM:613312
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ...	OMIM:619902
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli...	OMIM:618727
Snijders Blok-Campeau Syndrome	Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, Enamel hypoplasia	OMIM:618205
Braddock-Carey Syndrome 1	Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, Camptod...	OMIM:619980
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia	OMIM:605282
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Accessory oral frenulum, Flexion contracture, Hypoplasia of teeth, Inclusion body fibromatosis, C...	ORPHA:88630
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Oculoskeletodental Syndrome	Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia	ORPHA:557003
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Camptoda...	OMIM:618761
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene...	OMIM:613849
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Cockayne Syndrome Type 2	Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s...	ORPHA:90322
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Flexion contracture, Corneal scarring, Squamous cell carcinoma, Atrophic s...	OMIM:226600
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Abnormal palate morphology, Abnormality of the dentition	ORPHA:3270
Oslam Syndrome	Carious teeth, Osteosarcoma	ORPHA:2760
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Enlarged kidney	OMIM:615285
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,...	ORPHA:1133
Immunodeficiency 10	Kaposi's sarcoma, Amelogenesis imperfecta	OMIM:612783
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Qazi-Markouizos Syndrome	High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth	ORPHA:3010
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	OMIM:157980
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Arthrogryposis multiplex congenita, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	OMIM:226730
Metaphyseal Chondrodysplasia, Spahr Type	Carious teeth, Abnormality of the dentition	ORPHA:2501
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology	ORPHA:3236
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ...	ORPHA:363417
Congenital Disorder Of Glycosylation, Type Iik	Malar flattening, Amelogenesis imperfecta	OMIM:614727
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Usher Syndrome	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:886
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Odontochondrodysplasia	Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W...	OMIM:618067
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h...	OMIM:618874
Rapp-Hodgkin Syndrome	Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c...	OMIM:129400
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta	OMIM:610967
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta	OMIM:301014
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormality of dental color, Basal cell carcinoma, Hemangioma	OMIM:163200
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion	OMIM:619692
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, High palate, Dental malocclusion	OMIM:618292
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Flexion contracture, Dental malocclusion, Wide...	OMIM:619293
Acrofacial Dysostosis, Catania Type	Carious teeth	OMIM:101805
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Acrootoocular Syndrome	Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth...	ORPHA:2980
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion border, Hypodo...	OMIM:619184
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology	ORPHA:816
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Dental malocclusion, Abnormality of the dentition	ORPHA:1858
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Supernumerary tooth, Abnormality of the dentition	ORPHA:1264
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta	OMIM:619795
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypodontia, Shagreen patch	ORPHA:1816
Hypophosphatasia, Childhood	Carious teeth, Premature loss of primary teeth	OMIM:241510
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the...	OMIM:170390
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Gombo Syndrome	Microphthalmia	OMIM:233270
Ohdo Syndrome	Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narrow mouth, Smoo...	OMIM:249620
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti...	ORPHA:3220
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Dental malocclusion, Widely spaced teeth	OMIM:616108
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612462
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Cranioectodermal Dysplasia 4	Thin vermilion border, Smooth philtrum, Taurodontia	OMIM:614378
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Mucopolysaccharidosis Type 4	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W...	ORPHA:582
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl...	ORPHA:763
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion	ORPHA:181
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbow flexion contr...	OMIM:210600
Scarf Syndrome	Inguinal hernia, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcification of dental ...	ORPHA:3134
Specific Granule Deficiency 2	Amelogenesis imperfecta, Tooth malposition, Myelodysplasia, Conical tooth	OMIM:617475
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Enamel hypoplasia	OMIM:103580
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol...	ORPHA:96263
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	ORPHA:2563
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Malar flattening, High palate, Abnormal dental enamel morphology	ORPHA:2180
Lowry-Maclean Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, High, ...	ORPHA:2409
Hypophosphatasia, Adult	Carious teeth, Premature loss of permanent teeth, Chondrocalcinosis, Premature loss of primary teeth	OMIM:146300
Craniosynostosis 3	Dental malocclusion	OMIM:615314
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Ma...	ORPHA:364028
Blepharo-Cheilo-Odontic Syndrome	Carious teeth, Bilateral cleft lip and palate, Conical tooth	ORPHA:1997
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Trisomy 4P	Smooth philtrum, Camptodactyly of finger, Abnormality of the dentition, Carious teeth, Abnormal p...	ORPHA:1738
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Microdontia, Agenesis of molar, Supernumerary tooth, Diastema	OMIM:619718
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
Immunodeficiency 9	Stomatitis, Recurrent aphthous stomatitis, Amelogenesis imperfecta	OMIM:612782
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96264
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm...	OMIM:216550
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology	ORPHA:1782
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
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper...	ORPHA:819
Familial Adenomatous Polyposis 1	Astrocytoma, Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Medulloblastoma, Fibro...	OMIM:175100
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Enamel hypoplasia, Carious teeth	OMIM:277440
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thick vermilion bor...	OMIM:620250
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ...	OMIM:619229
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip	OMIM:616788
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Oligodontia, Hypodontia, Enamel hypoplasia	OMIM:607626
Tuberous Sclerosis 1	Chordoma, Dental enamel pits, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma...	OMIM:191100
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Malar flattening, Retrognathia, Abnormal palate morphology	ORPHA:1390
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Dysostosis, Stanescu Type	Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario...	ORPHA:1798
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Flynn-Aird Syndrome	Carious teeth	OMIM:136300
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To...	ORPHA:2863
Temtamy Syndrome	Long philtrum, Dental crowding, Hypoplasia of teeth, Micrognathia	OMIM:218340
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition	OMIM:615802
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ...	OMIM:253000
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Cole-Carpenter Syndrome 1	Microdontia, Dentinogenesis imperfecta, Micrognathia	OMIM:112240
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion	OMIM:616202
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Congenital Disorder Of Glycosylation, Type Iil	Enamel hypoplasia, Retrognathia	OMIM:614576
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth	ORPHA:457365
Hamamy Syndrome	Thin upper lip vermilion, Inguinal hernia, Micrognathia, Dental malocclusion, Wide mouth, High pa...	OMIM:611174
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth	ORPHA:2728
Cat-Eye Syndrome	Microphthalmia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormality of the ...	ORPHA:659
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Carious teeth, Limb joint contracture, Hypodontia	OMIM:612079
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,...	OMIM:164200
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enamel hypoplasia	OMIM:264700
Brittle Cornea Syndrome 1	Atypical scarring of skin, Dentinogenesis imperfecta	OMIM:229200
Raine Syndrome	Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p...	OMIM:259775
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou...	ORPHA:2457
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Micrognathia, Oral ulcer, Downturned corners of mouth, Hypodontia, Hernia...	OMIM:617052
Cockayne Syndrome Type 1	Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor...	ORPHA:90321
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia	OMIM:120433
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Cleft pala...	ORPHA:2916
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Micrognathia, Abn...	ORPHA:3253
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H...	OMIM:619736
Kilquist Syndrome	Mandibular prognathia, Wide mouth, Hypoplasia of teeth	OMIM:619080
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ...	OMIM:253010
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Neoplasm, Hypocalcification of dental enamel	ORPHA:169090
Short Syndrome	Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ...	ORPHA:3163
Codas Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1458
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Nanophthalmos	Microphthalmia	ORPHA:35612
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Schimke Immuno-Osseous Dysplasia	Lymphoproliferative disorder, Abnormal primary molar morphology, Hypodontia, Non-Hodgkin lymphoma...	ORPHA:1830
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia	ORPHA:466722
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Omphalocele	OMIM:614450
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Enamel hypoplasia, T-cell lymphoma	OMIM:243150
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi...	OMIM:608612
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
Orofaciodigital Syndrome I	Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu...	OMIM:311200
Xfe Progeroid Syndrome	Premature loss of teeth, Absence of subcutaneous fat, Enamel hypoplasia, Corneal scarring	OMIM:610965
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Gardner Syndrome	Astrocytoma, Brain neoplasm, Papillary thyroid carcinoma, Prostate cancer, Hepatoblastoma, Fibros...	ORPHA:79665
Microcephalic Primordial Dwarfism, Montreal Type	Lipoatrophy, Micrognathia, Open bite, Carious teeth, Abnormal palate morphology, Shagreen patch	ORPHA:2617
Scarf Syndrome	Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Long philtrum	OMIM:312830
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Micrognathia, Dental malocclusion, Alveolar ridge overgr...	ORPHA:444072
Corneodermatoosseous Syndrome	Carious teeth, Abnormal dental enamel morphology, Gingivitis	ORPHA:3194
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Dorsocervical fat pad, Micrognathia, Hypoplasia of teeth, Downturned co...	ORPHA:391408
Celiac Disease, Susceptibility To, 1	Stomatitis, Enamel hypoplasia, Lymphoma, Recurrent aphthous stomatitis	OMIM:212750
Lacrimoauriculodentodigital Syndrome 2	Carious teeth, Microdontia, Hypodontia, Conical tooth	OMIM:620192
Marshall Syndrome	Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s...	OMIM:154780
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Ectopic kidney, Cystic renal dysplasia, Hepatomegaly	OMIM:613730
Nanophthalmos 4	Microphthalmia	OMIM:615972
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger	ORPHA:1883
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna...	OMIM:265800
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M...	ORPHA:1452
Cleidocranial Dysplasia 1	Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup...	OMIM:119600
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Micrognathia	OMIM:259420
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum	OMIM:618825
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:289157
Oculodentodigital Dysplasia	Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri...	ORPHA:2710
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Gingival overgrowth, Narrow palate, Conical incisor, Oligodontia, Join...	OMIM:235510
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingi...	ORPHA:137834
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Supernumerary tooth, Medulloblas...	ORPHA:247806
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi...	OMIM:619777
Laron Syndrome	Microdontia, Tooth agenesis, Delayed eruption of teeth, Micrognathia	ORPHA:633
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t...	OMIM:607812
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria	OMIM:274270
Odontochondrodysplasia 1	Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum	OMIM:184260
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Facial capillary hema...	ORPHA:364577
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta	OMIM:610968
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth	OMIM:126550
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta	OMIM:166220
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad...	ORPHA:2547
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Atypical scarr...	OMIM:601701
Familial Adenomatous Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Eruption failure, Papillary thy...	ORPHA:733
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Acute l...	ORPHA:289
Biemond Syndrome Type 2	Microphthalmia, Hypospadias	ORPHA:141333
Cole-Carpenter Syndrome 2	Microretrognathia, High palate, Dentinogenesis imperfecta	OMIM:616294
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v...	ORPHA:73223
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali...	ORPHA:2909
Cherubism	Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod...	OMIM:118400
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:94089
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,...	OMIM:252100
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r...	OMIM:218400
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin...	OMIM:619269
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Micrognathia	OMIM:613680
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Hypoplasia of teeth	OMIM:234050
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Hypodontia	OMIM:601345
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Premature loss of teeth, Oral leukoplakia	OMIM:616353
Joubert Syndrome 22	Microphthalmia, Renal hypoplasia	OMIM:615665
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma...	OMIM:305100
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi...	ORPHA:1071
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Oral mucosal blisters, Atrophic scars, Smooth tongue, Squamous cell carcinoma of the sk...	ORPHA:79396
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
W Syndrome	Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U...	ORPHA:2804
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Steatocystoma multiplex, Angular cheilitis	OMIM:167210
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microdontia, Enamel hypoplasia, Retrognathia	OMIM:210720
Dyskeratosis Congenita	Neoplasm of the pancreas, Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth,...	ORPHA:1775
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,...	ORPHA:439822
Seckel Syndrome	Tooth agenesis, Abnormal dental enamel morphology, Micrognathia	ORPHA:808
Eec Syndrome	Abnormal dental enamel morphology, Carious teeth, Lymphoma, Cleft palate, Orofacial cleft, Tooth ...	ORPHA:1896
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig...	OMIM:269300
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Deep philtrum, Thick lower lip vermilion, Thin vermilion border, Abnormal palate m...	ORPHA:2701
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Narro...	ORPHA:2063
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Costello Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Thick lower lip vermilion, Narro...	ORPHA:3071
Porphyria, Congenital Erythropoietic	Erythrodontia, Joint contracture of the hand, Corneal scarring, Atypical scarring of skin	OMIM:263700
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Cleft palate, Hypoplasia of the zygomatic bon...	ORPHA:1812
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, Thin vermilion bor...	ORPHA:2323
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo...	ORPHA:1110
Osteoglosphonic Dysplasia	Tooth agenesis, Multiple unerupted teeth, Inguinal hernia, Micrognathia	ORPHA:2645
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Adeno...	ORPHA:3353
Chronic Mucocutaneous Candidiasis	Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology	ORPHA:1334
Distal Duplication 18Q	Abnormal dental morphology, Camptodactyly of finger, Micrognathia, Carious teeth, High palate	ORPHA:1716
Crisponi/Cold-Induced Sweating Syndrome 1	Micrognathia, Carious teeth, Trismus, Elbow flexion contracture, High palate, Narrow mouth, Retro...	OMIM:272430
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate...	OMIM:614701
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Ketonuria, Renal hypoplasia, Hepatomegaly	OMIM:619053
Lelis Syndrome	Mandibular prognathia, Carious teeth, Hypodontia, Furrowed tongue	ORPHA:140936
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v...	OMIM:300896
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic...	OMIM:608836
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Osteogenesis Imperfecta, Type Xiii	Umbilical hernia, Thin vermilion border, Dentinogenesis imperfecta, Long philtrum	OMIM:614856
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ...	OMIM:617303
Trichothiodystrophy	Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Carious teeth, High, nar...	ORPHA:33364
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Malar flattening	ORPHA:3258
Seckel Syndrome 2	Microphthalmia, Hypospadias, Ectopic kidney	OMIM:606744
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Carious teeth	OMIM:612714
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Cleft palate, Wide m...	ORPHA:85199
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Inguinal hernia, Micrognathia, Abnormality of the dentition, Elbow flexion...	OMIM:151050
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Bent Bone Dysplasia Syndrome 1	Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia	OMIM:614592
Codas Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Omphalocele	OMIM:600373
Treacher-Collins Syndrome	Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, H...	ORPHA:861
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta	OMIM:166200
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria	ORPHA:251004
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Dental crowdin...	OMIM:248370
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A...	ORPHA:534
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Scarring alopecia of scalp, Short philtrum, Cleft palate	OMIM:617337
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o...	OMIM:268400
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Mmep Syndrome	Microphthalmia	ORPHA:3434
Bresek Syndrome	Hypoplasia of the bladder, Optic nerve hypoplasia, Renal hypoplasia, Vesicoureteral reflux, Micro...	ORPHA:85284
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha...	OMIM:617914
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Abnormal dental enamel morphology, Myelodysplasia, Abnormality of the ...	ORPHA:221016
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Branchioskeletogenital Syndrome	Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m...	ORPHA:1299
3M Syndrome	Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p...	ORPHA:2616
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Advanced eruption of teeth, High palate	OMIM:262190
Pachyonychia Congenita	Natal tooth, Angular cheilitis, Steatocystoma multiplex, Advanced eruption of teeth, Oral leukopl...	ORPHA:2309
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Abnormal dental enamel morphology, Myelodysplasia, Abnormality of the ...	ORPHA:221008
Gorlin Syndrome	Mandibular prognathia, Neoplasm, Carious teeth	ORPHA:377
Cranioectodermal Dysplasia 3	Everted lower lip vermilion, Widely spaced teeth, Hypoplasia of teeth, Micrognathia	OMIM:614099
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Koolen-De Vries Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow palate, Narrow pala...	ORPHA:96169
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Glossoptosis, Micrognathia	ORPHA:93346
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney	OMIM:619318
Orofaciodigital Syndrome Xix	Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Tongue nodules, Downtur...	OMIM:620107
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Flexion con...	ORPHA:79408
Monosomy 18P	Micrognathia, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodonti...	ORPHA:1598
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Delayed eruption of ...	OMIM:216400
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Hypoplasia of the tooth germ...	ORPHA:293967
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ...	OMIM:232200
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Inguinal hernia, Enamel hypoplasia, Cleft palate	OMIM:272460
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal dental enamel morphology	ORPHA:1005
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta	OMIM:616507
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth	OMIM:259710
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Inguinal hernia, Abnormal dental enamel m...	ORPHA:666
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Microphthalmia	ORPHA:1473
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypopl...	OMIM:603457
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Enl...	OMIM:232220
Familial Multiple Lipomatosis	Odontogenic keratocysts of the jaw, Lipodystrophy, Increased adipose tissue, Medulloblastoma, Pre...	ORPHA:199276
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:79444
Cranioectodermal Dysplasia 1	Inguinal hernia, High, narrow palate, High palate, Widely spaced teeth, Everted lower lip vermili...	OMIM:218330
Hepatoerythropoietic Porphyria	Scarring alopecia of scalp, Erythrodontia, Scarring	ORPHA:95159
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia...	OMIM:208540
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization	OMIM:307800
Matthew-Wood Syndrome	Anophthalmia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia	ORPHA:2470
Autosomal Recessive Kenny-Caffey Syndrome	Carious teeth, Calvarial osteosclerosis	ORPHA:93324
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De...	OMIM:610829
Acrofacial Dysostosis, Catania Type	Microretrognathia, Smooth philtrum, Inguinal hernia, Abnormality of the dentition, Carious teeth,...	ORPHA:1786
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur...	OMIM:180849
Kindler Epidermolysis Bullosa	Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodactyly of finger, Cari...	ORPHA:2908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Congenital Erythropoietic Porphyria	Erythrodontia, Scarring, Increased connective tissue, Scarring alopecia of scalp, Squamous cell c...	ORPHA:79277
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion	OMIM:615560
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Microdontia, Pulp calcification	OMIM:606895
Meckel Syndrome, Type 5	Microphthalmia, Renal cyst	OMIM:611561
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena...	ORPHA:2363
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Orofaciodigital Syndrome Type 1	Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Micrognathia, Open ...	ORPHA:2750
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Dental crowding, Carious teeth, Pilomatrixoma, Supernumerary tooth, Talon cusp, Dent...	ORPHA:353281
X-Linked Hypophosphatemia	Odontodysplasia, Enthesitis, Cellulitis, Tooth abscess, Abnormal dentin morphology	ORPHA:89936
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velopharyngeal insufficien...	ORPHA:363444
Pierpont Syndrome	Microphthalmia, Micropenis	OMIM:602342
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth	OMIM:609638
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Cong...	ORPHA:2092
Osteogenesis Imperfecta, Type X	Malar flattening, Inguinal hernia, Dentinogenesis imperfecta, Micrognathia	OMIM:613848
Ane Syndrome	Multiple joint contractures, Lipoatrophy, Carious teeth, Hypodontia, Premature loss of teeth	ORPHA:157954
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Micrognathia, Eruption fa...	OMIM:619322
Cofs Syndrome	Microphthalmia	ORPHA:1466
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer...	OMIM:276700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Congenital Toxoplasmosis	Hepatomegaly, Microphthalmia, Cardiomegaly	ORPHA:858
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Kaposiform Lymphangiomatosis	Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly	ORPHA:464329
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Kenny-Caffey Syndrome, Type 1	Carious teeth, Calvarial osteosclerosis	OMIM:244460
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:79443
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Eiken Syndrome	Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee...	OMIM:600002
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
H Syndrome	Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly	ORPHA:168569
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Osteogenesis Imperfecta, Type Viii	Inguinal hernia, Dentinogenesis imperfecta	OMIM:610915
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis	OMIM:618188
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Vesicouret...	OMIM:609053
Cockayne Syndrome Type 3	Carious teeth, Enamel hypoplasia, Flexion contracture	ORPHA:90324
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr...	ORPHA:505248
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf...	ORPHA:449395
Joubert Syndrome 37	Microphthalmia, Micropenis, Hydronephrosis, Hepatomegaly	OMIM:619185
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Abnormal dental morphology, Delayed eruption of primary teet...	ORPHA:191
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Distal Duplication 5Q	Micrognathia, Carious teeth, Thin vermilion border, Hernia, Narrow mouth, Long philtrum	ORPHA:96097
Trisomy 13	Anophthalmia, Displacement of the urethral meatus, Abnormality of the ureter, Aplasia/Hypoplasia ...	ORPHA:3378
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod...	ORPHA:464
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Nephroblastoma	OMIM:602501
Severe Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Erosion of oral mucosa, Abnormal oral mucosa morphology, Squamous cell carcinoma	ORPHA:79404
Hermansky-Pudlak Syndrome	Basal cell carcinoma, Squamous cell carcinoma of the skin, Abnormal dental enamel morphology	ORPHA:79430
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Doors Syndrome	Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v...	ORPHA:79500
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Microphthalmia, Renal hypoplasia, Unilateral renal agenesis	OMIM:618494
Ctcf-Related Neurodevelopmental Disorder	Thin upper lip vermilion, Inguinal hernia, Abnormality of the dentition, Cleft palate, Thin vermi...	ORPHA:363611
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Renal hypoplasia	OMIM:618914
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Focal Dermal Hypoplasia	Omphalocele, Delayed eruption of teeth, Inguinal hernia, Congenital diaphragmatic hernia, Cleft u...	OMIM:305600
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Enlarged kidney	ORPHA:276280
Alg9-Cdg	Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal renal artery morphology, H...	ORPHA:79328
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, High, ...	ORPHA:2658
Meckel Syndrome, Type 2	Microphthalmia, Renal cyst	OMIM:603194
Bloom Syndrome	Lymphoma, Agenesis of maxillary lateral incisor, Squamous cell carcinoma, Malar flattening, Leukemia	OMIM:210900
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Renal neoplasm, Multiple joint contractures, Micrognathia, Carious teeth, Atrophic scars, High pa...	ORPHA:536467
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl...	ORPHA:79259
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Splenomegaly, Hepatomegaly	ORPHA:290
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Micropenis	OMIM:610756
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney	OMIM:252500
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ...	OMIM:614105
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C...	OMIM:268305
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ...	ORPHA:2769
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly	OMIM:618805
Fanconi Anemia, Complementation Group R	Microphthalmia, Pelvic kidney	OMIM:617244
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Corneal scarring, Keloids, Enamel hypoplasia, Joint contracture of the hand	OMIM:309000
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ...	ORPHA:731
Dyskeratosis Congenita, Autosomal Recessive 1	Microdontia, Carious teeth, Oral leukoplakia	OMIM:224230
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Dental crowding, Micrognathia, Carious teeth, Pilomatrixoma, Supernumerary tooth, Ta...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Dental crowding, Micrognathia, Carious teeth, Pilomatrixoma, Supernumerary tooth, Ta...	ORPHA:353277
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Hip contracture, Mandibular prognathia, Inguinal hernia, Den...	OMIM:619503
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Cleft palate, Downturned corn...	OMIM:616268
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Microphthalmia, Syndromic 5	Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Ring Chromosome 10 Syndrome	Microphthalmia, Renal hypoplasia/aplasia	ORPHA:1438
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney	ORPHA:500095
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Lissencephaly 8	Microphthalmia	OMIM:617255
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Stickler Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open...	ORPHA:828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ...	ORPHA:116
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Meckel Syndrome, Type 4	Microphthalmia, Renal cyst	OMIM:611134
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia, Hypospadias	ORPHA:77298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux	OMIM:120200
Meacham Syndrome	Enlarged kidney, Horseshoe kidney	OMIM:608978
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl...	OMIM:617666
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Dyskeratosis Congenita, Autosomal Dominant 1	Myelodysplasia, Carious teeth, Squamous cell carcinoma of the skin, Premature loss of teeth, Oral...	OMIM:127550
Cockayne Syndrome B	Mandibular prognathia, Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Ca...	OMIM:133540
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Unilateral microphthalmos	OMIM:615085
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomegaly	OMIM:261740
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate	OMIM:266270
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Microphthalmia, Micropenis, Right ventricular hypertrophy	ORPHA:335
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Marden-Walker Syndrome	Microphthalmia, Micropenis, Hypospadias, Renal hypoplasia	OMIM:248700
Turnpenny-Fry Syndrome	Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, D...	OMIM:618371
Smith-Lemli-Opitz Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, M...	ORPHA:818
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Cardiomegaly	OMIM:618652
Peters-Plus Syndrome	Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C...	OMIM:261540
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Camurati-Engelmann Disease	Mandibular prognathia, Carious teeth, Reduced subcutaneous adipose tissue	OMIM:131300
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna	OMIM:615873
Duane-Radial Ray Syndrome	Renal malrotation, Optic disc hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Ves...	OMIM:607323
Rere-Related Neurodevelopmental Syndrome	Vesicoureteral reflux, Microphthalmia, Hypospadias	ORPHA:494344
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney	ORPHA:508
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney	OMIM:306955
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Ogden Syndrome	Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney, Cardiomegaly	OMIM:300855
Fanconi Anemia, Complementation Group F	Renal hypoplasia, Microphallus, Vesicoureteral reflux, Microphthalmia, Pelvic kidney	OMIM:603467
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Pelvic kidney, Hydronephrosis	OMIM:613001
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Micropenis	OMIM:602361
Tetrasomy 9P	Abnormal number of permanent teeth, Dental crowding, Abnormal dental enamel morphology, Median cl...	ORPHA:3310
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Ectopic kidney, Abnormal renal morphology, Horsesho...	OMIM:227650
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Moebius Syndrome	Microphthalmia, Micropenis	OMIM:157900
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Oligosacchariduria	ORPHA:163649
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A...	ORPHA:158668
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Kindler Syndrome	Carious teeth, Periodontitis, Oral leukoplakia, Gingivitis	OMIM:173650
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Long philtrum	OMIM:610682
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Baraitser-Winter Syndrome 1	Microphthalmia, Micropenis	OMIM:243310
Refsum Disease	Splenomegaly, Microphthalmia, Renal insufficiency	ORPHA:773
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Micro Syndrome	Microphthalmia, Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney	ORPHA:2510
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Microphthalmia	OMIM:600901
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Microphthalmia, Hydronephrosis	ORPHA:568
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Warburg Micro Syndrome 4	Microphthalmia, Micropenis	OMIM:615663
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Multicystic kidney dysplasia	ORPHA:3301
Joubert Syndrome 14	Microphthalmia, Renal cyst	OMIM:614424
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:2328
Proteus Syndrome	Abnormal dental enamel morphology, Testicular neoplasm, Carious teeth, Retinal hamartoma, Abnorma...	ORPHA:744
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Pseudotrisomy 13 Syndrome	Microphthalmia, Micropenis, Renal agenesis, Renal hypoplasia	OMIM:264480
Stromme Syndrome	Hydronephrosis, Microphthalmia, Bilateral renal hypoplasia, Optic nerve hypoplasia	OMIM:243605
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Stevenson-Carey Syndrome	Microphthalmia, Recurrent urinary tract infections	OMIM:611961
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Hydronephrosis	OMIM:616449
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Pierson Syndrome	Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5...	OMIM:609049
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta...	OMIM:182250
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena...	OMIM:146510
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo...	OMIM:617729
Warburg Micro Syndrome 3	Microphthalmia, Micropenis	OMIM:614222
Microphthalmia, Syndromic 9	Renal malrotation, Anophthalmia, Bilateral microphthalmos, Renal hypoplasia, Horseshoe kidney, Pe...	OMIM:601186
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Microphthalmia, Hyd...	ORPHA:99776
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasi...	ORPHA:2538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
22Q11.2 Deletion Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, C...	ORPHA:567
Joubert Syndrome 2	Microphthalmia, Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Acro-Renal-Ocular Syndrome	Renal malrotation, Optic disc hypoplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder div...	ORPHA:959
Microphthalmia With Linear Skin Defects Syndrome	Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Micrognathia, Mandibular apla...	ORPHA:2556
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Hydronephrosis	ORPHA:35173
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Thin upper lip vermilion, Aplasia of the right hemidiaphragm, Micrognathia...	OMIM:619841
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Walker-Warburg Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia	ORPHA:899
Proximal Renal Tubular Acidosis	Enamel hypomineralization	ORPHA:47159
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
3Q29 Microdeletion Syndrome	Microphthalmia, Hypospadias, Horseshoe kidney	ORPHA:65286
Cat Eye Syndrome	Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Hydronephrosis	OMIM:115470
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Microphthalmia	OMIM:227645
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias	ORPHA:2505
Mosaic Trisomy 1	Renal cortical cysts, Renal cyst, Microphthalmia, Micropenis, Penile hypospadias	ORPHA:1692
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Micropenis	OMIM:241410
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,...	OMIM:312870
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux, Microphthalmia, Hydronephrosis	ORPHA:2059
Cardiac-Urogenital Syndrome	Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus	OMIM:618280
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Microphthalmia, M...	OMIM:227646
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hypoplasia of the iris, Nephrotic ...	OMIM:251300
Kapur-Toriello Syndrome	Microphthalmia, Micropenis, Abnormality of the urinary system	OMIM:244300
Pallister-Killian Syndrome	Omphalocele, Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Delayed erupt...	OMIM:601803
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Rodrigues Blindness	Microphthalmia	OMIM:268320
Warburg Micro Syndrome 2	Microphthalmia, Micropenis	OMIM:614225
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Teebi-Shaltout Syndrome	Microphthalmia, Ureteral stenosis, Hydronephrosis, Horseshoe kidney	OMIM:272950
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Renal dysplasia	OMIM:618571
Fanconi Anemia, Complementation Group L	Microphthalmia, Micropenis, Renal hypoplasia, Unilateral renal agenesis	OMIM:614083
Chromosome 13Q33-Q34 Deletion Syndrome	Left ventricular hypertrophy, Microphthalmia, Penoscrotal transposition, Hypospadias	OMIM:619148
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Hypospadias	OMIM:615877
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Hydronephrosis	OMIM:302960
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Martsolf Syndrome 1	Microphthalmia, Micropenis	OMIM:212720
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Renal hypoplasia, Renal cyst	OMIM:616300
Meckel Syndrome 14	Microphthalmia, Polycystic kidney dysplasia	OMIM:619879
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Male urethral meatus stenosis, Hydronephrosis, Hypospadias	ORPHA:464738
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos	ORPHA:369891
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Microphthalmia, Hydronephrosis	ORPHA:250989
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
8Q21.11 Microdeletion Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:284160
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Microphthalmia, Micropenis	OMIM:206900
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ectopic kidney	ORPHA:268249
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Optic nerve hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Micropht...	ORPHA:508498
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Micropenis	OMIM:614230
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia	ORPHA:3412
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormal localization of kidney, Micr...	ORPHA:2166
Williams Syndrome	Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Ope...	ORPHA:904
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Inguinal hernia, Camptodactyly of finger, Abnormal dental enamel morphology, Cheilitis	ORPHA:2273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Hydronephrosis	ORPHA:2839
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia	ORPHA:2250
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Renal cyst, Microphthalmia, Congenital aphakia	ORPHA:137675
Cousin Syndrome	Microphthalmia, Hydronephrosis	OMIM:260660
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Trisomy 18	Microphthalmia, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:3380
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Aplasia/Hypoplasia of the iris,...	ORPHA:564
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Ohdo Syndrome, X-Linked	Microphthalmia, Micropenis	OMIM:300895
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Microphthalmia, Renal dysplasia, Optic nerve hypoplasia	OMIM:236670
Alström Syndrome	Abnormality of dental color, Dorsocervical fat pad, Gingivitis, Tooth agenesis, Recurrent sinusitis	ORPHA:64
Fanconi Anemia	Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas...	ORPHA:84
Fryns Syndrome	Ureteral duplication, Hypospadias, Renal agenesis, Renal cyst, Microphthalmia, Hydronephrosis	OMIM:229850
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Vesicoureteral reflux, Microphthalmia, Hypospadias, Renal cyst	OMIM:616975
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1052
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Micropenis, Chordee, Hypospadias	OMIM:309801
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Proteinuria, Abnormality of the urinary system, Microphthalmia	ORPHA:2162
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia, Hypospadias	OMIM:147791
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral microphthalmos, Microph...	ORPHA:468631
Degcags Syndrome	Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnorma...	OMIM:619488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Renal hypoplasia	OMIM:620005
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Hypospadias	OMIM:223370
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, Ureteral agenesis, Duplication o...	ORPHA:141099
Cohen Syndrome	Microphthalmia	ORPHA:193
Frontorhiny	Microphthalmia	ORPHA:391474
Steinfeld Syndrome	Microphthalmia, Unilateral renal dysplasia	OMIM:184705
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Splenomegaly, Abnormality of the ureter, Polycystic ki...	OMIM:249000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Tetraamelia Syndrome 1	Microphthalmia, Renal agenesis, Urethral atresia	OMIM:273395
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia, Horseshoe kidney	ORPHA:1106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Bartsocas-Papas Syndrome 1	Microphthalmia, Micropenis, Ectopic kidney	OMIM:263650
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Micropenis, Hypospadias, Horseshoe kidney	OMIM:609945
Roberts Syndrome	Microphthalmia, Long penis, Polycystic kidney dysplasia	ORPHA:3103
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, U...	ORPHA:2052
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Oculoauricular Syndrome	Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia	OMIM:612109
Monosomy 9Q22.3	Microphthalmia, Nephroblastoma	ORPHA:77301
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Monosomy 9P	Microphthalmia, Ureteropelvic junction obstruction, Hypospadias	ORPHA:261112
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:3186
Renpenning Syndrome 1	Microphthalmia, Hypospadias, Renal hypoplasia, Phimosis	OMIM:309500
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Micropenis	OMIM:617925
Hallermann-Streiff Syndrome	Microphthalmia	OMIM:234100
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Hypospadias, Ureterocele	OMIM:616734
Charge Syndrome	Anophthalmia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Micropenis, Hydronephrosis	ORPHA:138
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia, Homocystinuria	OMIM:601552
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Microphthalmia, Syndromic 1	Dental crowding, Cleft upper lip, High, narrow palate, Orofacial cleft, Agenesis of maxillary lat...	OMIM:309800
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Johanson-Blizzard Syndrome	Downturned corners of mouth, Hypoplasia of the primary teeth, Long philtrum, Agenesis of permanen...	OMIM:243800
Yunis-Varon Syndrome	Hypospadias, Cardiomegaly, Bilateral microphthalmos, Renovascular hypertension, Renal artery sten...	ORPHA:3472
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Basal Cell Nevus Syndrome 1	Microphthalmia	OMIM:109400
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Fraser Syndrome 1	Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Bilateral microphthalmos, Renal hypoplasia, ...	OMIM:219000
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Charge Syndrome	Anophthalmia, Renal agenesis, Unilateral microphthalmos, Horseshoe kidney, Renal hypoplasia, Micr...	OMIM:214800
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Micropenis	OMIM:613884
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Microphthalmia, Syndromic 2	Microphthalmia, Phthisis bulbi, Anophthalmia, Hypospadias	OMIM:300166
Aicardi Syndrome	Microphthalmia	ORPHA:50
8Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Unilateral renal agenesis, Abnormality of the kidney, Bilateral microphth...	ORPHA:508488
Fontaine Progeroid Syndrome	Left ventricular hypertrophy, Microphthalmia, Micropenis	OMIM:612289
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos	OMIM:610828
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Aicardi Syndrome	Microphthalmia	OMIM:304050
Hydrolethalus Syndrome 1	Microphthalmia, Hypospadias, Hydronephrosis	OMIM:236680
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Right ventricular hypertrophy	OMIM:620186
Pallister-Hall Syndrome	Hypospadias, Unilateral renal agenesis, Ectopic kidney, Bilateral renal agenesis, Microphthalmia,...	ORPHA:672
Mend Syndrome	Microphthalmia	ORPHA:401973
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia, Renal hypoplasia	OMIM:607932
Holoprosencephaly 1	Microphthalmia, Micropenis	OMIM:236100
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Myhre Syndrome	Microphthalmia	OMIM:139210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Branchiooculofacial Syndrome	Anophthalmia, Renal agenesis, Hypospadias, Renal cyst, Microphthalmia	OMIM:113620
Witteveen-Kolk Syndrome	Hypospadias, Phimosis, Male urethral meatus stenosis, Microphallus, Microphthalmia	OMIM:613406
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Neu-Laxova Syndrome 1	Microphthalmia, Renal agenesis	OMIM:256520
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux...	OMIM:164210
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Chordee, Vesicoure...	ORPHA:261537
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Abnormality of the...	ORPHA:2152
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Roberts-Sc Phocomelia Syndrome	Hypospadias, Long penis, Horseshoe kidney, Polycystic kidney dysplasia, Microphthalmia	OMIM:268300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Duplication of ren...	ORPHA:261552
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, Lens coloboma	OMIM:619539
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Abnormality of the kidney	OMIM:235730
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Holoprosencephaly 2	Microphthalmia	OMIM:157170

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 Ambn

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Ambn.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Intrinsically disordered proteins drive enamel formation via an evolutionarily conserved self-assembly motif.	Proceedings of the National Academy of Sciences of the United States of America (February 2017)	Ambn^{em2(IMPC)Ccpcz} Ambn^{em1(IMPC)Ccpcz}	PMC5338493

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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
Ambn^{tm367295(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ambn^em1(IMPC)Mbp	Intra-exon deletion	Mice, Tissue

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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Gene: Ambn MGI:104655

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Ambn mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data