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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
microphthalmia	Ambn^em1(IMPC)Mbp	HOM	Early adult
enlarged kidney	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
abnormal eye morphology	Ambn^em1(IMPC)Mbp	HOM	Early adult
abnormal skin morphology	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 Lateral Orientation

37 Images

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X-ray

XRay Images Whole Body Dorso Ventral

75 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 (925 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, Amelogenesis imperfecta, Enamel hypoplasia	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	Periapical bone loss, Microdontia, Taurodontia, Oligodontia, Enamel hypoplasia, Pulp obliteration...	OMIM:125400
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar	OMIM:114700
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Generalized microdontia, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:104530
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization	OMIM:613211
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia	OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth	OMIM:615887
Amelogenesis Imperfecta, Type Iv	Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia	OMIM:104510
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi...	OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Amelogenesis Imperfecta, Type Iiib	Amelogenesis imperfecta, Enamel hypomineralization	OMIM:617607
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Tooth Agenesis, Selective, 9	Taurodontia, Selective tooth agenesis, Microdontia	OMIM:617275
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo...	OMIM:616221
Amelogenesis Imperfecta, Type Ik	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:620104
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:616270
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Dentin Dysplasia	Abnormal dental enamel morphology, Abnormal dental morphology, Exostoses	ORPHA:1653
Dental Ankylosis	Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis	ORPHA:1077
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth...	OMIM:612529
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ...	OMIM:166750
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Anonychia-Microcephaly Syndrome	Abnormality of the dentition, Carious teeth	ORPHA:1094
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	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, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Osteomas Of Mandible	Abnormal mandible morphology, Osteoma	OMIM:166400
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Trichodentoosseous Syndrome	Taurodontia, Microdontia, Widely spaced teeth	OMIM:190320
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Late-Onset Junctional Epidermolysis Bullosa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79406
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia	OMIM:226650
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia	ORPHA:3196
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Junctional Epidermolysis Bullosa Inversa	Atrophic scars, Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79405
Epidermolysis Bullosa, Junctional 4, Intermediate	Dental enamel pits, Scarring alopecia of scalp, Carious teeth	OMIM:619787
Jalili Syndrome	Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta	ORPHA:1873
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno...	ORPHA:477781
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent...	ORPHA:1028
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth	ORPHA:2027
Amelocerebrohypohidrotic Syndrome	Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b...	ORPHA:1946
Otodental Syndrome	Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Delayed eruption of teeth,...	ORPHA:2791
Steatocystoma Multiplex With Natal Teeth	Steatocystoma multiplex, Natal tooth	OMIM:184510
Steatocystoma Multiplex	Steatocystoma multiplex, Natal tooth	OMIM:184500
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic...	ORPHA:3352
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	High palate, Enamel hypoplasia, Retrognathia	OMIM:617915
Stimmler Syndrome	Abnormal dental enamel morphology, Microdontia	ORPHA:3199
Cleft Palate, Isolated	Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate	OMIM:119540
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Enamel hypoplasia, Malar flattening, Thin vermilion border	ORPHA:139474
Intermediate Generalized Junctional Epidermolysis Bullosa	Atrophic scars, Scarring alopecia of scalp, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79402
Heimler Syndrome 1	Amelogenesis imperfecta, Enamel hypoplasia	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, Malar flattening, Hypodontia, Alveolar pro...	ORPHA:2972
Epidermolysis Bullosa, Junctional 1B, Severe	Atrophic scars, Carious teeth, Enamel hypoplasia	OMIM:226700
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Atypical scarring of skin, Scarring alopecia of scalp, Enamel hypoplasia, Abn...	ORPHA:251393
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Mandibular osteomyelitis, Dental malocclusion, Periapical bone loss...	ORPHA:83451
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Flexion contracture, Carious teeth, Generalized hypoplasia of dental enamel	OMIM:203550
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg...	ORPHA:199306
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Actinic keratosis, Oropharyngeal squamous cell carcinoma, Conical incisor, Enamel ...	OMIM:614564
Gigantiform Cementoma, Familial	Tooth malposition, Cementoma, Multiple impacted teeth	OMIM:137575
Kohlschutter-Tonz Syndrome	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:226750
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2222
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Splenogonadal Fusion With Limb Defects And Micrognathia	Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors	OMIM:183300
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Heimler Syndrome 2	Amelogenesis imperfecta, Dental crowding	OMIM:616617
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth	ORPHA:248
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology	OMIM:217150
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth	ORPHA:71267
Trichodental Dysplasia	Hypodontia, Conical tooth, Odontodysplasia	OMIM:601453
Atkin-Flaitz Syndrome	Maxillary lateral incisor microdontia, Abnormality of the dentition, Everted lower lip vermilion,...	ORPHA:1193
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man...	ORPHA:2325
Hall-Riggs Syndrome	Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Microdontia of pri...	OMIM:234250
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased connective tissue, Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia	OMIM:226670
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Carious teeth, Tooth agenesis, Micrognathia, Inguinal hernia, Hip contracture,...	OMIM:618363
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Usher Syndrome Type 2	Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia	ORPHA:231178
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Ectodermal Dysplasia/Short Stature Syndrome	Hypodontia, Enamel hypoplasia, Delayed eruption of teeth	OMIM:616029
Tooth Agenesis, Selective, 3	Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia	OMIM:604625
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Downturned corners of mouth	ORPHA:2643
Intellectual Developmental Disorder, X-Linked 58	Short philtrum, Dental malocclusion	OMIM:300210
48,Xyyy Syndrome	Long philtrum, Thick lower lip vermilion, Enamel hypoplasia, Irregularly spaced teeth, High palate	ORPHA:99329
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b...	ORPHA:2025
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Delayed eruption of teeth	OMIM:612463
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Dental Anomalies And Short Stature	Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta...	OMIM:601216
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2026
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv...	OMIM:618729
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Filippi Syndrome	Serrated incisors, Abnormal dental morphology, Microdontia, Hypodontia, Thin vermilion border, Sh...	OMIM:272440
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Cranioectodermal Dysplasia	Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia, Taurodontia, Hypodo...	ORPHA:1515
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Rubinstein-Taybi Syndrome 2	Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Micrognathia, Increased overbite...	OMIM:613684
Ramon Syndrome	Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth	ORPHA:3019
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
Intellectual Disability, Birk-Barel Type	High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion...	ORPHA:166108
Intellectual Disability And Myopathy Syndrome	Dental malocclusion, Thin upper lip vermilion, Achilles tendon contracture, Incisor macrodontia, ...	OMIM:619719
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee...	ORPHA:2228
Seckel Syndrome 5	Retrognathia, Selective tooth agenesis, Micrognathia, Oligodontia, Hypodontia, Enamel hypoplasia,...	OMIM:613823
Ectodermal Dysplasia-Syndactyly Syndrome 1	Conical tooth, Enamel hypoplasia, Widely spaced teeth	OMIM:613573
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan...	ORPHA:69087
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Micrognathia, Microdontia	OMIM:610706
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Nephroblastoma, Absent frontal sinuses, Hypod...	OMIM:253250
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia	OMIM:612843
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Maxi...	OMIM:300602
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:245660
Intellectual Developmental Disorder, Autosomal Dominant 21	Long philtrum, Narrow mouth, Thin vermilion border, Incisor macrodontia, Cleft palate	OMIM:615502
Cenani-Lenz Syndactyly Syndrome	Micrognathia, Malar flattening, Hypodontia, Enamel hypoplasia, Premature loss of permanent teeth	OMIM:212780
Immunodeficiency 33	Hypodontia, Conical tooth, Delayed eruption of teeth	OMIM:300636
Enamel-Renal Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho...	ORPHA:1031
Sjogren-Larsson Syndrome	Flexion contracture, Enamel hypoplasia	OMIM:270200
Nance-Horan Syndrome	Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar	OMIM:302350
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly...	OMIM:613496
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	High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ...	ORPHA:2919
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
48,Xxyy Syndrome	Broad jaw, Carious teeth, Delayed eruption of teeth, Lymphoma, Thick lower lip vermilion, Abnorma...	ORPHA:10
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Pyle Disease	Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,...	OMIM:265900
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth	OMIM:615905
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth	ORPHA:3145
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Self-Improving Dystrophic Epidermolysis Bullosa	Atrophic scars, Carious teeth, Oral mucosal blisters	ORPHA:79411
Meckel Syndrome, Type 8	Hyperechogenic kidneys, Anophthalmia, Microphthalmia, Polycystic kidney dysplasia, Enlarged kidney	OMIM:613885
Odontomicronychial Dysplasia	Abnormality of the dentition, Carious teeth, Premature eruption of permanent teeth, Premature los...	ORPHA:1811
Snijders Blok-Campeau Syndrome	Widely spaced teeth, Umbilical hernia, Inguinal hernia, Taurodontia, Enamel hypoplasia, High palate	OMIM:618205
Eem Syndrome	Carious teeth, Selective tooth agenesis, Widely spaced teeth, Abnormal dental morphology, Microdo...	ORPHA:1897
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Enamel hypoplasia, Widely spaced teeth	OMIM:620193
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hypodontia, Delayed eruption of teeth	ORPHA:63442
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Abnormal dental enamel morphology, Hypodontia, Scarring alopecia of scalp, Oligodontia	ORPHA:59303
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ...	OMIM:618727
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypoplasia of teeth, Carious teeth	OMIM:613312
Braddock-Carey Syndrome 1	Enamel hypoplasia, Everted lower lip vermilion, Thick vermilion border, Camptodactyly, U-Shaped u...	OMIM:619980
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal...	OMIM:619902
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Inclusion body fibromatosis, Camptodactyly, Hypoplasia of teeth, Flexion contracture, Accessory o...	ORPHA:88630
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Microdontia, Deep philtrum, Talon cusp, Cleft palate	OMIM:605282
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Oculoskeletodental Syndrome	Abnormality of the dentition, Retrognathia, Microdontia, Oligodontia, Enamel hypoplasia	ORPHA:557003
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2238
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Atrophic scars, Arthrogryposis multiplex congenita, Enamel hypoplasia, Oral mucosal blisters	OMIM:226730
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Hemifacial Atrophy, Progressive	Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami	OMIM:141300
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Atrophic scars, Corneal scarring, Narrow mouth, Oral mucosal blisters, Squamous cell carcinoma, E...	OMIM:226600
Cockayne Syndrome Type 2	Widely spaced primary teeth, Hypoplasia of the primary teeth, Anodontia, Delayed eruption of prim...	ORPHA:90322
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Inguinal hernia, Increase...	OMIM:618761
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma...	OMIM:204690
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormality of the dentition, Carious teeth, Abnormal palate morphology	ORPHA:3270
Oslam Syndrome	Carious teeth, Osteosarcoma	ORPHA:2760
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth, Refractory anemia wit...	ORPHA:1133
Qazi-Markouizos Syndrome	High, narrow palate, Hypoplasia of teeth, Open mouth, Broad philtrum	ORPHA:3010
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum	ORPHA:3214
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Enlarged kidney	OMIM:615285
Congenital Disorder Of Glycosylation, Type Iik	Amelogenesis imperfecta, Malar flattening	OMIM:614727
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology	ORPHA:3236
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo...	OMIM:157980
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth	ORPHA:2501
Usher Syndrome	Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia	ORPHA:886
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormality of dental color, Abnormal dental morphology, Hemangioma, Basal cell carcinoma	OMIM:163200
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Hypoplasia of the maxilla, Abnormality of canine, Abnormality of the dentition...	ORPHA:363417
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular...	OMIM:614669
Odontochondrodysplasia	Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia	ORPHA:166272
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilion, Bilateral clef...	OMIM:618874
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Ectopic tooth eruption, Umbilical hernia	OMIM:606893
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te...	OMIM:618067
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Taurodontia, Pulp calcification, Enamel hypoplasia	OMIM:211900
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta	OMIM:610967
Rapp-Hodgkin Syndrome	Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc...	OMIM:129400
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta	OMIM:301014
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma...	ORPHA:85445
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, High palate	OMIM:613849
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic...	OMIM:602088
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion	OMIM:619692
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Blepharophimosis-Impaired Intellectual Development Syndrome	Dental malocclusion, Widely spaced teeth, Exaggerated cupid's bow, Microdontia, Thin upper lip ve...	OMIM:619293
Scarf Syndrome	Long philtrum, Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Hypocalcification of dental ...	ORPHA:3134
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, Dental malocclusion, High palate	OMIM:618292
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Oculodentodigital Dysplasia, Autosomal Recessive	Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio...	OMIM:257850
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, Oligodontia, Hypodontia, Enamel hypoplasia, Thick verm...	OMIM:619184
Acrootoocular Syndrome	High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Grayish enamel, Micrognathia...	ORPHA:2980
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology	ORPHA:816
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Abnormality of the dentition, Mandibular prognathia, Dental malocclusion	ORPHA:1858
Andersen-Tawil Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Persistence of primary ...	ORPHA:37553
Familial Adenomatous Polyposis 1	Carious teeth, Multiple lipomas, Hepatoblastoma, Osteoma, Desmoid tumors, Carcinoma, Keloids, Eru...	OMIM:175100
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta	OMIM:619795
Hypophosphatasia, Childhood	Carious teeth, Premature loss of primary teeth	OMIM:241510
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Delayed eruption of teeth	OMIM:612462
Dermatitis Herpetiformis	Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth	ORPHA:1656
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Supernumerary tooth, Oligodontia	ORPHA:1264
Gombo Syndrome	Microphthalmia	OMIM:233270
Andersen Cardiodysrhythmic Periodic Paralysis	Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla...	OMIM:170390
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypodontia, Delayed eruption of teeth, Shagreen patch	ORPHA:1816
Cranioectodermal Dysplasia 4	Taurodontia, Smooth philtrum, Thin vermilion border	OMIM:614378
Ohdo Syndrome	Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Smooth philtrum, Thin vermilion b...	OMIM:249620
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Capillary hem...	ORPHA:50814
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Taurodontia, Abnormality of the dentition, Abnormal dental enamel morphology, Camptodactyly of fi...	ORPHA:3220
Mucopolysaccharidosis Type 4	Abnormality of the dentition, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, H...	ORPHA:582
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Dental malocclusion, Malar flattening, Widely spaced teeth	OMIM:616108
Pycnodysostosis	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Pers...	ORPHA:763
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Pseudohypoparathyroidism, Type Ia	Enamel hypoplasia, Delayed eruption of teeth	OMIM:103580
X-Linked Hypohidrotic Ectodermal Dysplasia	Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia	ORPHA:181
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Specific Granule Deficiency 2	Tooth malposition, Amelogenesis imperfecta, Myelodysplasia, Conical tooth	OMIM:617475
Seckel Syndrome 1	Dental malocclusion, Dental crowding, Selective tooth agenesis, Elbow flexion contracture, Microg...	OMIM:210600
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
48,Xxxy Syndrome	Carious teeth, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Inguinal ...	ORPHA:96263
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal dental enamel morphology, High palate, Mandibular prognathia, Malar flattening	ORPHA:2180
Hypophosphatasia, Adult	Chondrocalcinosis, Carious teeth, Premature loss of primary teeth, Premature loss of permanent teeth	OMIM:146300
Lowry-Maclean Syndrome	High, narrow palate, Hypoplasia of the maxilla, Retrognathia, Downturned corners of mouth, Microg...	ORPHA:2409
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Carious teeth, Bilateral cleft palate	ORPHA:1997
Craniosynostosis 3	Dental malocclusion	OMIM:615314
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m...	ORPHA:364028
Gardner Syndrome	Colon cancer, Ampulla of Vater carcinoma, Multiple unerupted teeth, Hepatoblastoma, Brain neoplas...	ORPHA:79665
Trisomy 4P	Abnormality of the dentition, Carious teeth, Camptodactyly of finger, Abnormal palate morphology,...	ORPHA:1738
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Hall-Riggs Syndrome	Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morphology, Thick ...	ORPHA:2107
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Solitary median maxillary central incisor, Advanced ...	ORPHA:952
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to...	ORPHA:2751
Den Hoed-De Boer-Voisin Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ...	OMIM:619229
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Supernumerary tooth, Agenesis of molar, Diastema, Microdontia	OMIM:619718
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Pseudohypoparathyroidism Type 1B	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:94089
Dysosteosclerosis	Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth	ORPHA:1782
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, High palate, ...	ORPHA:438216
49,Xxxxy Syndrome	Carious teeth, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Taurodont...	ORPHA:96264
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Vitamin D-Dependent Rickets, Type 2A	Carious teeth, Enamel hypoplasia, Delayed eruption of teeth	OMIM:277440
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man...	OMIM:602483
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Microphthalmia	ORPHA:2432
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Angiofibromas, Desmoid tumors, Neoplasm ...	ORPHA:733
Smith-Magenis Syndrome	Cleft upper lip, Micrognathia, Open mouth, Tented upper lip vermilion, Delayed eruption of primar...	ORPHA:819
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Carious teeth, Widely spaced teeth, Grayish enamel, Inguinal hernia, Wide ...	OMIM:253000
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Retrognathia, Long philtrum, Micrognathia, Narrow mouth, Short philtrum, Hypodonti...	OMIM:620250
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat...	ORPHA:1798
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Nephroblastoma	OMIM:618272
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hypodontia, Enamel hypoplasia, Oligodontia	OMIM:607626
Tuberous Sclerosis 1	Dental enamel pits, Chordoma, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Re...	OMIM:191100
Odontotrichoungual-Digital-Palmar Syndrome	Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border	OMIM:601957
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Malar flattening, Abnormal palate morphology, Retrognathia	ORPHA:1390
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Micrognathia, Microdontia	OMIM:112240
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Temtamy Syndrome	Hypoplasia of teeth, Micrognathia, Dental crowding, Long philtrum	OMIM:218340
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Micrognathia, Abnormality of ...	ORPHA:2863
Apc-Related Attenuated Familial Adenomatous Polyposis	Colon cancer, Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Mul...	ORPHA:247806
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Isolated Cleft Lip	Velopharyngeal insufficiency, Umbilical hernia, Macrodontia, Supernumerary maxillary incisor, Hyp...	ORPHA:199302
Flynn-Aird Syndrome	Carious teeth	OMIM:136300
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bifid uvula, Wide mouth, Enamel hypoplasia, Abnormality of the dentition	OMIM:615802
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Osteogenesis Imperfecta, Type Vi	Dentinogenesis imperfecta	OMIM:613982
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Congenital Disorder Of Glycosylation, Type Iil	Enamel hypoplasia, Retrognathia	OMIM:614576
Oculodentodigital Dysplasia	Carious teeth, Selective tooth agenesis, Cleft upper lip, Joint contracture of the 5th finger, Mi...	OMIM:164200
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Narrow palate, Carious teeth, Narrow mouth, Thick lower lip vermilion	ORPHA:457365
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality of primary teeth,...	OMIM:150400
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Carious teeth, Widely spaced teeth, Grayish enamel, Inguinal hernia, Wide ...	OMIM:253010
Hamamy Syndrome	Dental malocclusion, Long philtrum, Micrognathia, Inguinal hernia, Thin upper lip vermilion, Hypo...	OMIM:611174
Cerebellofaciodental Syndrome	Taurodontia, Macrodontia of permanent maxillary central incisor, Dental malocclusion	OMIM:616202
Raine Syndrome	Natal tooth, Arthrogryposis multiplex congenita, Micrognathia, Narrow mouth, Malar flattening, Pr...	OMIM:259775
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Microphthalmia, Renal hypoplasia/aplasia	ORPHA:195
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enamel hypoplasia, Delayed eruption of teeth	OMIM:264700
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the dentition, Carious teeth, Hypoplasia of the zygomatic bone, Cleft upper lip, A...	ORPHA:3253
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Hypodontia, Carious teeth, Reduced subcutaneous adipose tissue, Limb joint contracture	OMIM:612079
Brittle Cornea Syndrome 1	Dentinogenesis imperfecta, Atypical scarring of skin	OMIM:229200
Cockayne Syndrome Type 1	Abnormality of the dentition, Foot joint contracture, Widely spaced primary teeth, Hypoplasia of ...	ORPHA:90321
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Hypoplasia of teeth, Widely spaced teeth, Cleft palate, Microdontia	ORPHA:2728
Orofacial Cleft 15	Palate fistula, Inguinal hernia, Bilateral cleft palate, Bilateral cleft lip, Agenesis of lateral...	OMIM:616788
Kilquist Syndrome	Hypoplasia of teeth, Wide mouth, Mandibular prognathia	OMIM:619080
Mandibuloacral Dysplasia	Increased subcutaneous truncal adipose tissue, Dental crowding, Contractures of the large joints,...	ORPHA:2457
Bone Marrow Failure Syndrome 3	Downturned corners of mouth, Micrognathia, Oral ulcer, Microdontia, Hernia, Hypodontia, Amelogene...	OMIM:617052
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ...	OMIM:263200
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia	OMIM:120433
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal dental enamel morphology, Macrodontia, Hypodontia, Vaginal hernia, Mandibular prognathia...	ORPHA:2916
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Hi...	OMIM:619736
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Short Syndrome	Abnormality of the dentition, Abnormal mandible morphology, Abnormal dental enamel morphology, Ma...	ORPHA:3163
Codas Syndrome	Abnormal dental enamel morphology, Abnormal dental morphology, Delayed eruption of teeth	ORPHA:1458
Cole-Carpenter Syndrome	Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth	ORPHA:2050
Endosteal Hyperostosis, Autosomal Dominant	Torus palatinus, Dental malocclusion	OMIM:144750
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Neoplasm, Hypocalcification of dental enamel	ORPHA:169090
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Nanophthalmos	Microphthalmia	ORPHA:35612
Schimke Immuno-Osseous Dysplasia	Microdontia, Abnormal primary molar morphology, Hypodontia, Non-Hodgkin lymphoma, Lymphoprolifera...	ORPHA:1830
Knobloch Syndrome 2	Micrognathia, Enamel hypoplasia	OMIM:618458
Gastrointestinal Defects And Immunodeficiency Syndrome 1	T-cell lymphoma, Enamel hypoplasia, Omphalocele	OMIM:243150
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia	ORPHA:466722
Hypothyroidism, Congenital, Nongoitrous, 6	Macroglossia, Delayed eruption of teeth, Omphalocele	OMIM:614450
Acrofacial Dysostosis, Catania Type	Micrognathia, Carious teeth, Malar flattening, Cleft palate	OMIM:101805
Orofaciodigital Syndrome I	Microretrognathia, Carious teeth, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis o...	OMIM:311200
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Xfe Progeroid Syndrome	Absence of subcutaneous fat, Corneal scarring, Enamel hypoplasia, Premature loss of teeth	OMIM:610965
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Neoplasm of the skin, Carious teet...	ORPHA:659
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Generalized lipodystrophy, Micrognathia, Narrow mouth, Decreased adipose tissue ...	OMIM:608612
Cerebellar-Facial-Dental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Foot joint contracture, ...	ORPHA:444072
Arthrogryposis, Distal, Type 12	Ankle flexion contracture, Dental crowding, Inguinal hernia, Knee flexion contracture, Achilles t...	OMIM:620545
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microcephalic Primordial Dwarfism, Montreal Type	Carious teeth, Open bite, Micrognathia, Abnormal palate morphology, Lipoatrophy, Shagreen patch	ORPHA:2617
Lacrimoauriculodentodigital Syndrome 2	Hypodontia, Conical tooth, Carious teeth, Microdontia	OMIM:620192
Scarf Syndrome	Enamel hypoplasia, Inguinal hernia, Long philtrum, Umbilical hernia	OMIM:312830
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Downturned corners of mouth, Long philtrum, Micrognathia, Narrow mouth, Dorsocervical fat pad, Ol...	ORPHA:391408
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Corneodermatoosseous Syndrome	Abnormal dental enamel morphology, Carious teeth, Gingivitis	ORPHA:3194
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Microphthalmia	OMIM:613730
Celiac Disease, Susceptibility To, 1	Recurrent aphthous stomatitis, Enamel hypoplasia, Stomatitis, Lymphoma	OMIM:212750
Nanophthalmos 4	Microphthalmia	OMIM:615972
Marshall Syndrome	Macrodontia of permanent maxillary central incisor, Bifid uvula, Long philtrum, Thick lower lip v...	OMIM:154780
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger	ORPHA:1883
Cleidocranial Dysplasia	High, narrow palate, Abnormality of the dentition, Carious teeth, Hypoplasia of the zygomatic bon...	ORPHA:1452
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Cleidocranial Dysplasia 1	High, narrow palate, Narrow palate, Absent paranasal sinuses, Micrognathia, Malar flattening, Del...	OMIM:119600
Dihydropyrimidine Dehydrogenase Deficiency	Uraciluria, Elevated urinary dihydrothymine level, Microphthalmia	OMIM:274270
Pycnodysostosis	Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs...	OMIM:265800
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Micrognathia	OMIM:259420
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Dental crowding, Delayed eruption of teeth, Long philtrum, High palate, Wide mouth	OMIM:618825
Odontoonychodermal Dysplasia	Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t...	OMIM:257980
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Umbilical hernia, Ging...	ORPHA:137834
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Delayed eruption of teeth, Retrognathia, Umbilical hernia, Gingiva...	OMIM:235510
Oculodentodigital Dysplasia	Broad alveolar ridges, Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, Camptoda...	ORPHA:2710
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Joint contracture of the hand, Dental malocclusion, Micrognathia, Malar flattening, Camptodactyly	OMIM:608257
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio...	OMIM:143400
Developmental And Epileptic Encephalopathy 100	Elbow flexion contracture, Micrognathia, Gingival overgrowth, Protruding tongue, Tented upper lip...	OMIM:619777
Craniolenticulosutural Dysplasia	Bifid uvula, Carious teeth, Delayed eruption of teeth, Long philtrum, Capillary hemangioma, Malar...	OMIM:607812
Odontochondrodysplasia 1	Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum	OMIM:184260
Cole-Carpenter Syndrome 2	Dentinogenesis imperfecta, High palate, Microretrognathia	OMIM:616294
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Congenital Syphilis	Hyperplasia of the maxilla, Mulberry molar, Notched primary central incisor, High palate, Semilun...	ORPHA:499009
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Dentinogenesis imperfecta, Periodontitis, Retrognathia, Delayed eruption of permanent teeth, Prem...	OMIM:619269
Laron Syndrome	Tooth agenesis, Micrognathia, Delayed eruption of teeth, Microdontia	ORPHA:633
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta	OMIM:166220
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta	OMIM:610968
Immunodeficiency 9	Recurrent aphthous stomatitis, Amelogenesis imperfecta, Stomatitis	OMIM:612782
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever...	OMIM:616367
Arthrogryposis And Ectodermal Dysplasia	Joint contracture of the hand, Atypical scarring of skin, Cleft upper lip, Abnormal dental enamel...	OMIM:601701
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hydroureter, Abnormality of the upper urinary tract, Microphthalmia, Hypoplasia of penis, Abnorma...	ORPHA:2547
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Microglossia, Cleft mandible, Facial capillary hemangioma, Tented upper li...	ORPHA:364577
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Dental malocclusion, Long philtrum, Micrognathia, Conical incisor, Thin vermilion border, Maxilla...	ORPHA:73223
Biemond Syndrome Type 2	Hypospadias, Microphthalmia	ORPHA:141333
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth	OMIM:126550
Cherubism	Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin...	OMIM:118400
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Abnormality of the dentition, Acute leukemia, Delayed eruption o...	ORPHA:289
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Atypical scarring of skin, Keloids, Carious teeth, Atrophic scars, Oral mucosal blisters	ORPHA:79410
Beaulieu-Boycott-Innes Syndrome	Micrognathia, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency	OMIM:613680
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,...	ORPHA:1071
Trichothiodystrophy 4, Nonphotosensitive	Hypoplasia of teeth, Retrognathia	OMIM:234050
Orofaciodigital Syndrome Ii	Hypoplasia of the maxilla, Lobulated tongue, Micrognathia, Agenesis of central incisor, Malar fla...	OMIM:252100
Joubert Syndrome 22	Renal hypoplasia, Microphthalmia	OMIM:615665
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Smooth tongue, Atrophic scars, Squamous cell carcinoma of the skin, Oral mucosal blisters, Scarri...	ORPHA:79396
Pachyonychia Congenita 2	Angular cheilitis, Steatocystoma multiplex, Natal tooth, Oral leukoplakia	OMIM:167210
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Hypodontia, Natal tooth, Oligodontia	OMIM:601345
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Oral leuko...	ORPHA:1775
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Oral leukoplakia, Premature loss of teeth	OMIM:616353
Rothmund-Thomson Syndrome	Abnormality of the dentition, Neoplasm of the skin, Carious teeth, Basal cell carcinoma, Delayed ...	ORPHA:2909
Malan Syndrome	Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption...	OMIM:614753
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Notched primary central incisor, Cleft lip	OMIM:620519
Tetrasomy 12P	Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,...	ORPHA:884
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Enamel hypoplasia, Retrognathia, Microdontia	OMIM:210720
Pde4D Haploinsufficiency Syndrome	Hypoplasia of the maxilla, Long philtrum, Abnormal dental enamel morphology, Micrognathia, Malar ...	ORPHA:439822
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Conical tooth, Everted upper lip verm...	OMIM:305100
Hypocalcemic Vitamin D-Dependent Rickets	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:289157
W Syndrome	Upper lip pit, Broad uvula, Submucous cleft hard palate, Camptodactyly, Agenesis of maxillary cen...	ORPHA:2804
Chronic Mucocutaneous Candidiasis	Abnormal dental enamel morphology, Cheilitis, Abnormal lip morphology	ORPHA:1334
Costello Syndrome	Abnormality of the dentition, Thick lower lip vermilion, Abnormal dental enamel morphology, Papil...	ORPHA:3071
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Thick lower lip vermilion, Abnormal palate morphology, Deep philtrum, Thin vermili...	ORPHA:2701
Lelis Syndrome	Hypodontia, Carious teeth, Mandibular prognathia, Furrowed tongue	ORPHA:140936
Seckel Syndrome	Abnormal dental enamel morphology, Micrognathia, Tooth agenesis	ORPHA:808
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of the zygomatic bone, Retrognathia, Abnormal dental enamel morphology, Inguinal herni...	ORPHA:1812
Eec Syndrome	Carious teeth, Lymphoma, Tooth agenesis, Abnormal dental enamel morphology, Microdontia, Taurodon...	ORPHA:1896
Craniometadiaphyseal Dysplasia	Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Malar flattening, Microdon...	OMIM:269300
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Tooth agenesis, Micrognathia, Congenital diaphragmatic hernia, Abnormal palate morphology, Inguin...	ORPHA:2063
Immunodeficiency 10	Amelogenesis imperfecta, Kaposi's sarcoma	OMIM:612783
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Diaphanospondylodysostosis	Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia	OMIM:608022
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Facial hyperos...	OMIM:218400
Sanjad-Sakati Syndrome	Abnormality of the dentition, Long philtrum, Abnormal dental enamel morphology, Micrognathia, Thi...	ORPHA:2323
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Carious teeth, Hypoplasia of the zygomatic bone, Downturned corners of mouth, Narrow mouth, Mandi...	ORPHA:1110
Orofaciodigital Syndrome Iii	Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules	OMIM:258850
Osteoglosphonic Dysplasia	Multiple unerupted teeth, Micrognathia, Inguinal hernia, Tooth agenesis	ORPHA:2645
Porphyria, Congenital Erythropoietic	Erythrodontia, Joint contracture of the hand, Atypical scarring of skin, Corneal scarring	OMIM:263700
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Renal hypoplasia, Ketonuria, Microphthalmia	OMIM:619053
Trichodermodysplasia-Dental Alterations Syndrome	Neoplasm of the skin, Delayed eruption of teeth, Tooth agenesis, Abnormal dental morphology, Aden...	ORPHA:3353
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Velopharyngeal insufficiency, Long philtrum, Submucous cleft hard palate, Enamel agenesis, Thin u...	OMIM:614701
Distal Duplication 18Q	Carious teeth, Camptodactyly of finger, Abnormal dental morphology, Micrognathia, High palate	ORPHA:1716
Crisponi/Cold-Induced Sweating Syndrome 1	Carious teeth, Retrognathia, Long philtrum, Elbow flexion contracture, Micrognathia, Narrow mouth...	OMIM:272430
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Carious teeth	OMIM:612714
Congenital Disorder Of Glycosylation, Type Iim	Open mouth, Exaggerated cupid's bow, Short philtrum, Fused teeth, Enamel hypoplasia, Thick vermil...	OMIM:300896
Trichothiodystrophy	High, narrow palate, Carious teeth, Retrognathia, Umbilical hernia, Absence of subcutaneous fat, ...	ORPHA:33364
Bent Bone Dysplasia Syndrome 1	Micrognathia, Natal tooth, Malar flattening, Gingival overgrowth	OMIM:614592
Osteogenesis Imperfecta, Type Xiii	Thin vermilion border, Dentinogenesis imperfecta, Long philtrum, Umbilical hernia	OMIM:614856
Cenani-Lenz Syndrome	High, narrow palate, Abnormal dental enamel morphology, Malar flattening, Hypodontia, Short philtrum	ORPHA:3258
Lenz-Majewski Hyperostotic Dwarfism	Abnormality of the dentition, Microglossia, Elbow flexion contracture, Micrognathia, Inguinal her...	OMIM:151050
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Enlarged kidney, Cystic renal dysplasia	OMIM:615415
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Renal insufficiency, Hydronephrosis, Cardiomegaly, Long-chain dicarboxylic acidu...	OMIM:608836
Recessive Dystrophic Epidermolysis Bullosa Inversa	Atrophic scars, Carious teeth, Oral mucosal blisters	ORPHA:79409
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic...	OMIM:617303
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Enlarged kidney	OMIM:314390
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental enamel morphology, Abnormal dental morphology, Micrognathia, Malar flattening, Ab...	ORPHA:85199
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Codas Syndrome	Enamel hypoplasia, Delayed eruption of teeth, Omphalocele	OMIM:600373
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta	OMIM:166200
Acrocallosal Syndrome	Everted upper lip vermilion, Narrow mouth, Open mouth, Protruding tongue, Alveolar process hypopl...	OMIM:200990
Treacher-Collins Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Branchial fistula, Hypoplasia of the zyg...	ORPHA:861
Orofaciodigital Syndrome Xix	Narrow palate, Carious teeth, Retrognathia, Downturned corners of mouth, Lobulated tongue, Cleft ...	OMIM:620107
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Micrognathia, Carious teeth, Glossoptosis	ORPHA:93346
3M Syndrome	Abnormal dental enamel morphology, Long philtrum, Delayed eruption of teeth, Everted lower lip ve...	ORPHA:2616
Oculocerebrorenal Syndrome Of Lowe	Neoplasm of the skin, Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Everted ...	ORPHA:534
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Short philtrum, Scarring alopecia of scalp, Natal tooth, Cleft palate	OMIM:617337
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Agenesis of permanent teeth, Micrognathia, Microdontia, Squamous cell ...	OMIM:268400
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria	ORPHA:251004
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Microphtha...	OMIM:617914
Bresek Syndrome	Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Microphthalmia, Renal dysplas...	ORPHA:85284
Mmep Syndrome	Microphthalmia	ORPHA:3434
Branchioskeletogenital Syndrome	Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Abnormality of the dentition, Downturned c...	ORPHA:1299
Cockayne Syndrome A	Atypical scarring of skin, Carious teeth, Dental malocclusion, Loss of facial adipose tissue, Red...	OMIM:216400
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Advanced eruption of teeth, High palate, Mandibular prognathia	OMIM:262190
Mandibuloacral Dysplasia With Type A Lipodystrophy	Dental crowding, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow...	OMIM:248370
Pachyonychia Congenita	Natal tooth, Oral leukoplakia, Steatocystoma multiplex, Advanced eruption of teeth, Angular cheil...	ORPHA:2309
Cranioectodermal Dysplasia 3	Hypoplasia of teeth, Micrognathia, Everted lower lip vermilion, Widely spaced teeth	OMIM:614099
Koolen-De Vries Syndrome	High, narrow palate, Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia...	ORPHA:96169
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Bifid uvula, Hypoplasia of the tooth germ, Micrognathia, Contracture of the proximal interphalang...	ORPHA:293967
Rothmund-Thomson Syndrome Type 2	Abnormality of the dentition, Neoplasm of the skin, Carious teeth, Basal cell carcinoma, Delayed ...	ORPHA:221016
Monosomy 18P	Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, Hypodontia, Short ph...	ORPHA:1598
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ...	OMIM:194080
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Inguinal hernia, Cleft palate, Enamel hypoplasia	OMIM:272460
Oculogastrointestinal Neurodevelopmental Syndrome	Horseshoe kidney, Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Rothmund-Thomson Syndrome Type 1	Abnormality of the dentition, Neoplasm of the skin, Carious teeth, Basal cell carcinoma, Delayed ...	ORPHA:221008
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei...	OMIM:232200
Chand Syndrome	Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenesis of maxilla...	ORPHA:1401
Bosma Arhinia Microphthalmia Syndrome	Cleft lip, Dental malocclusion, Inguinal hernia, Paranasal sinus hypoplasia, High palate, Hypopla...	OMIM:603457
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal dental enamel morphology	ORPHA:1005
Osteogenesis Imperfecta	Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela...	ORPHA:666
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Seckel Syndrome 2	Hypospadias, Ectopic kidney, Microphthalmia	OMIM:606744
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta	OMIM:616507
Nail-Patella Syndrome	Elbow flexion contracture, Contracture of the distal interphalangeal joint of the fingers, Knee f...	ORPHA:2614
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Microphthalmia	ORPHA:1473
Osteopetrosis, Autosomal Recessive 2	Persistence of primary teeth, Carious teeth, Mandibular prognathia, Mandibular osteomyelitis	OMIM:259710
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Medulloblastoma, Lipodystrophy, Odontogenic keratocysts of...	ORPHA:199276
Cranioectodermal Dysplasia 1	High, narrow palate, Widely spaced teeth, Inguinal hernia, Anodontia, Microdontia, Hypodontia, En...	OMIM:218330
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Hepatoerythropoietic Porphyria	Erythrodontia, Scarring, Scarring alopecia of scalp	ORPHA:95159
Autosomal Recessive Kenny-Caffey Syndrome	Carious teeth, Calvarial osteosclerosis	ORPHA:93324
Pseudohypoparathyroidism Type 1C	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:79444
Matthew-Wood Syndrome	Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Anophthalmia, Microphthalmia	ORPHA:2470
Kindler Epidermolysis Bullosa	Atypical scarring of skin, Carious teeth, Periodontitis, Camptodactyly of finger, Abnormal dental...	ORPHA:2908
Renal-Hepatic-Pancreatic Dysplasia 1	Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Ureteral atre...	OMIM:208540
Acrofacial Dysostosis, Catania Type	Abnormality of the dentition, Carious teeth, Microretrognathia, Hypoplasia of the zygomatic bone,...	ORPHA:1786
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit...	OMIM:232220
Rubinstein-Taybi Syndrome 1	Micrognathia, Narrow mouth, Leukemia, High palate, High, narrow palate, Hypoplasia of the maxilla...	OMIM:180849
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion	OMIM:615560
Elsahy-Waters Syndrome	Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long phil...	OMIM:211380
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Congenital Erythropoietic Porphyria	Neoplasm of the skin, Erythrodontia, Increased connective tissue, Scarring, Scarring alopecia of ...	ORPHA:79277
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Dental crowding, Retrognathia, Long philtrum, Umbilical hernia, Micrognathia, Open mouth, Inguina...	OMIM:620654
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Pulp calcification, Microdontia	OMIM:606895
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Meckel Syndrome, Type 5	Renal cyst, Microphthalmia	OMIM:611561
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Mild proteinuria, Microphthalmia	OMIM:301108
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Marbach-Rustad Progeroid Syndrome	Eruption failure, Micrognathia, Narrow mouth, Reduced subcutaneous adipose tissue, Delayed erupti...	OMIM:619322
Lacrimoauriculodentodigital Syndrome	Bifid uvula, Abnormality of the dentition, Carious teeth, Abnormal dental enamel morphology, Micr...	ORPHA:2363
Osteogenesis Imperfecta, Type X	Dentinogenesis imperfecta, Micrognathia, Malar flattening, Inguinal hernia	OMIM:613848
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Pierpont Syndrome	Micropenis, Microphthalmia	OMIM:602342
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, R...	ORPHA:363444
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization	OMIM:307800
X-Linked Hypophosphatemia	Cellulitis, Abnormal dentin morphology, Tooth abscess, Enthesitis, Odontodysplasia	ORPHA:89936
Orofaciodigital Syndrome Type 1	Abnormality of the dentition, Odontogenic neoplasm, Lip pit, Hypoplasia of the zygomatic bone, Lo...	ORPHA:2750
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Carious teeth, Natal tooth, Dental malocclusion, Dental crowding, Keloids, Meningioma, Neoplasm, ...	ORPHA:353281
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth	OMIM:609638
Focal Dermal Hypoplasia	Abnormality of the dentition, Tooth agenesis, Abnormal dental enamel morphology, Open bite, Abnor...	ORPHA:2092
Ane Syndrome	Carious teeth, Multiple joint contractures, Hypodontia, Lipoatrophy, Premature loss of teeth	ORPHA:157954
Cofs Syndrome	Microphthalmia	ORPHA:1466
Tyrosinemia, Type I	Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Rena...	OMIM:276700
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Cleft lip, Inguinal hernia, Long philtrum	OMIM:620568
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia	OMIM:613091
Eiken Syndrome	Eruption failure, Thick lower lip vermilion, Persistence of primary teeth, Multiple impacted teet...	OMIM:600002
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Enlarged kidney, Cystic renal dysplasia	OMIM:200995
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Microphthalmia	ORPHA:858
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Kaposiform Lymphangiomatosis	Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney	ORPHA:464329
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o...	ORPHA:449395
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Developmental And Epileptic Encephalopathy 1	Micropenis, Microphthalmia	OMIM:308350
Kenny-Caffey Syndrome, Type 1	Carious teeth, Calvarial osteosclerosis	OMIM:244460
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas...	OMIM:130650
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Pseudohypoparathyroidism Type 1A	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:79443
Cockayne Syndrome Type 3	Flexion contracture, Carious teeth, Enamel hypoplasia	ORPHA:90324
Cockayne Syndrome	Carious teeth, Dental malocclusion, Congenital contracture, Contractures of the large joints, Age...	ORPHA:191
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
H Syndrome	Micropenis, Hepatosplenomegaly, Enlarged kidney, Abnormality of the kidney	ORPHA:168569
Osteogenesis Imperfecta, Type Viii	Dentinogenesis imperfecta, Inguinal hernia	OMIM:610915
Endocrine-Cerebroosteodysplasia	Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys	OMIM:612651
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Enlarged kidney	OMIM:618188
Fanconi Anemia, Complementation Group I	Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Abnormal renal morphology, Microphthal...	OMIM:609053
Incontinentia Pigmenti	Verrucae, Delayed eruption of teeth, Camptodactyly of finger, Abnormal dental enamel morphology, ...	ORPHA:464
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Joubert Syndrome 37	Hydronephrosis, Hepatomegaly, Micropenis, Microphthalmia	OMIM:619185
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heav...	ORPHA:505248
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal oral mucosa morphology, Erosion of oral mucosa, Enamel hypoplasia, Squamous cell carcinoma	ORPHA:79404
Distal Duplication 5Q	Carious teeth, Long philtrum, Micrognathia, Narrow mouth, Hernia, Thin vermilion border	ORPHA:96097
Trisomy 13	Abnormality of the ureter, Anophthalmia, Aplasia/Hypoplasia of the iris, Displacement of the uret...	ORPHA:3378
Lacrimoauriculodentodigital Syndrome 1	Carious teeth, Delayed eruption of primary teeth, Microdontia, Absence of Stensen duct, Conical i...	OMIM:149730
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology, Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79430
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Microphthalmia	OMIM:602501
Ctcf-Related Neurodevelopmental Disorder	Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Long philtrum, ...	ORPHA:363611
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia, Microphthalmia	OMIM:618494
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Doors Syndrome	Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Narrow palate, ...	ORPHA:79500
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia, Lens coloboma, Microphthalmia	OMIM:618914
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia	OMIM:164180
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Focal Dermal Hypoplasia	Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Umbilical hernia, Laryngeal papi...	OMIM:305600
Lenz-Majewski Hyperostotic Dwarfism	High, narrow palate, Bifid uvula, Facial hyperostosis, Abnormal dental enamel morphology, Wide mo...	ORPHA:2658
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Methylma...	OMIM:614105
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dentinogenesis imperfecta, Carious teeth, Long philtrum, Atrophic scars, Micrognathia, Multiple j...	ORPHA:536467
Hypomagnesemia 3, Renal	Amelogenesis imperfecta, Enamel hypoplasia, Hypomature enamel	OMIM:248250
Alg9-Cdg	Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Hepatomegaly, Ureter...	ORPHA:79328
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Nephroblastoma	ORPHA:276280
Bloom Syndrome	Lymphoma, Malar flattening, Squamous cell carcinoma, Agenesis of maxillary lateral incisor, Leukemia	OMIM:210900
Meckel Syndrome, Type 2	Renal cyst, Microphthalmia	OMIM:603194
Holoprosencephaly 9	Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Downturned corners ...	OMIM:610829
Mucolipidosis Ii Alpha/Beta	Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enlarged kidney	OMIM:252500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Tubulointerstitia...	ORPHA:79259
Congenital Rubella Syndrome	Hepatomegaly, Aplasia/Hypoplasia of the iris, Splenomegaly, Microphthalmia	ORPHA:290
Cerebrooculofacioskeletal Syndrome 2	Micropenis, Microphthalmia	OMIM:610756
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Keloids, Camptodactyly of finger, Corneal scarring, Enamel hypoplasia	OMIM:309000
Fanconi Anemia, Complementation Group R	Pelvic kidney, Microphthalmia	OMIM:617244
Robin Sequence With Cleft Mandible And Limb Anomalies	Bifid uvula, Microretrognathia, Cleft mandible, Micrognathia, Narrow mouth, Cleft lower alveolar ...	OMIM:268305
Familial Osteodysplasia, Anderson Type	Tooth malposition, Carious teeth, Failure of eruption of permanent teeth, Malar flattening, Abnor...	ORPHA:2769
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microphthalmia	OMIM:618805
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Delayed eruption of teeth, Downturned corners of mouth, Arthrogryposis multiplex...	OMIM:619503
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re...	ORPHA:731
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Dyskeratosis Congenita, Autosomal Recessive 1	Carious teeth, Oral leukoplakia, Microdontia	OMIM:224230
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Narrow palate, Carious teeth, Natal tooth, Dental malocclusion, Dental crowding, Keloids, Meningi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Narrow palate, Carious teeth, Natal tooth, Dental malocclusion, Dental crowding, Keloids, Meningi...	ORPHA:353277
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Horseshoe kidney, Nephroblastoma, Ectopic kidney, Microphthalmia, Pelv...	OMIM:610832
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Microphthalmia, Syndromic 5	Micropenis, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Ring Chromosome 10 Syndrome	Microphthalmia, Renal hypoplasia/aplasia	ORPHA:1438
Arboleda-Tham Syndrome	Microretrognathia, Downturned corners of mouth, Peg-shaped maxillary lateral incisors, Wide mouth...	OMIM:616268
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Stickler Syndrome	Bifid uvula, Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Cleft upper lip, Abnorm...	ORPHA:828
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney	ORPHA:500095
Cockayne Syndrome B	Atypical scarring of skin, Carious teeth, Dental malocclusion, Loss of facial adipose tissue, Red...	OMIM:133540
Lissencephaly 8	Microphthalmia	OMIM:617255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Meckel Syndrome, Type 4	Renal cyst, Microphthalmia	OMIM:611134
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Anophthalmia, Microphthalmia	ORPHA:77298
Dyskeratosis Congenita, Autosomal Dominant 1	Carious teeth, Oral leukoplakia, Squamous cell carcinoma of the skin, Myelodysplasia, Premature l...	OMIM:127550
Microphthalmia/Coloboma 12	Optic nerve aplasia, Vesicoureteral reflux, Microphthalmia	OMIM:120200
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney	OMIM:261740
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nephrolithiasis,...	ORPHA:116
Turnpenny-Fry Syndrome	Abnormality of the dentition, Dental malocclusion, Downturned corners of mouth, Dental crowding, ...	OMIM:618371
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of...	OMIM:617666
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Meacham Syndrome	Horseshoe kidney, Enlarged kidney	OMIM:608978
Ramon Syndrome	Narrow palate, Gingival fibromatosis, Delayed eruption of teeth	OMIM:266270
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Unilateral microphthalmos, Splenomegaly	OMIM:615085
Congenital Fibrinogen Deficiency	Micropenis, Left ventricular hypertrophy, Right ventricular hypertrophy, Microphthalmia	ORPHA:335
Smith-Lemli-Opitz Syndrome	Microglossia, Long philtrum, Tooth agenesis, Abnormal dental enamel morphology, Abnormal dental m...	ORPHA:818
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Microphthalmia	OMIM:618652
Marden-Walker Syndrome	Micropenis, Renal hypoplasia, Hypospadias, Microphthalmia	OMIM:248700
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Peters-Plus Syndrome	Hypoplasia of the maxilla, Cleft upper lip, Widely spaced teeth, Long philtrum, Umbilical hernia,...	OMIM:261540
Camurati-Engelmann Disease	Carious teeth, Mandibular prognathia, Reduced subcutaneous adipose tissue	OMIM:131300
Rere-Related Neurodevelopmental Syndrome	Vesicoureteral reflux, Hypospadias, Microphthalmia	ORPHA:494344
Heterotaxy, Visceral, 1, X-Linked	Renal agenesis, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Enlarged kidney	OMIM:306955
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Enlarged kidney, Recurrent urinary tract infections	OMIM:615873
Duane-Radial Ray Syndrome	Renal hypoplasia, Renal agenesis, Optic disc hypoplasia, Horseshoe kidney, Crossed fused renal ec...	OMIM:607323
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Ogden Syndrome	Cardiomegaly, Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney	OMIM:300855
Leprechaunism	Nephrocalcinosis, Long penis, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarged kidney	ORPHA:508
Fanconi Anemia, Complementation Group F	Renal hypoplasia, Microphallus, Vesicoureteral reflux, Microphthalmia, Pelvic kidney	OMIM:603467
Encephalocraniocutaneous Lipomatosis	Hydronephrosis, Hypoplasia of the iris, Pelvic kidney, Microphthalmia	OMIM:613001
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia	OMIM:601794
Gracile Bone Dysplasia	Micropenis, Aniridia, Microphthalmia	OMIM:602361
Tetrasomy 9P	Bifid uvula, Dental crowding, Downturned corners of mouth, Umbilical hernia, Abnormal dental enam...	ORPHA:3310
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Fanconi Anemia, Complementation Group A	Renal agenesis, Horseshoe kidney, Abnormal renal morphology, Microphthalmia, Duplicated collectin...	OMIM:227650
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Moebius Syndrome	Micropenis, Microphthalmia	OMIM:157900
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Oligosacchariduria, Microphthalmia	ORPHA:163649
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormality of the dentition, Carious teeth, Chapped lip, Abnormal tongue morphology, Abnormal de...	ORPHA:158668
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Kindler Syndrome	Gingivitis, Carious teeth, Periodontitis, Oral leukoplakia	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
Baraitser-Winter Syndrome 1	Micropenis, Microphthalmia	OMIM:243310
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Refsum Disease	Renal insufficiency, Splenomegaly, Microphthalmia	ORPHA:773
Micro Syndrome	Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis, Microphthalmia	ORPHA:2510
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Fanconi Anemia, Complementation Group E	Renal agenesis, Horseshoe kidney, Microphthalmia, Duplicated collecting system, Ectopic kidney	OMIM:600901
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Microphthalmia, Lenz Type	Hydroureter, Renal hypoplasia/aplasia, Hydronephrosis, Microphthalmia, Hypospadias	ORPHA:568
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Septo-optic dysplasia, Microphthalmia	ORPHA:3301
Joubert Syndrome 14	Renal cyst, Microphthalmia	OMIM:614424
Kapur-Toriello Syndrome	Hypoplasia of penis, Microphthalmia	ORPHA:2328
Warburg Micro Syndrome 4	Micropenis, Microphthalmia	OMIM:615663
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Stevenson-Carey Syndrome	Microphthalmia, Recurrent urinary tract infections	OMIM:611961
Stromme Syndrome	Hydronephrosis, Optic nerve hypoplasia, Bilateral renal hypoplasia, Microphthalmia	OMIM:243605
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Proteus Syndrome	Rib exostoses, Carious teeth, Exostosis of the external auditory canal, Open mouth, Visceral angi...	ORPHA:744
Basel-Vanagaite-Smirin-Yosef Syndrome	Hydronephrosis, Hypospadias, Microphthalmia	OMIM:616449
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Pseudotrisomy 13 Syndrome	Micropenis, Renal hypoplasia, Renal agenesis, Microphthalmia	OMIM:264480
Pierson Syndrome	Hyperechogenic kidneys, Hypoplasia of the iris, Stage 5 chronic kidney disease, Rieger anomaly, P...	OMIM:609049
Singleton-Merten Syndrome 1	Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Thin up...	OMIM:182250
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Abnormal dental enamel morphology, Micrognathia, Congenital diaphragmatic hernia, M...	ORPHA:2556
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Anop...	ORPHA:2538
Galloway-Mowat Syndrome 3	Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, M...	OMIM:617729
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Joubert Syndrome 2	Renal cyst, Nephronophthisis, Renal insufficiency, Microphthalmia	OMIM:608091
Microphthalmia, Syndromic 9	Renal hypoplasia, Bilateral microphthalmos, Horseshoe kidney, Anophthalmia, Hydronephrosis, Pelvi...	OMIM:601186
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Warburg Micro Syndrome 3	Micropenis, Microphthalmia	OMIM:614222
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Pallister-Killian Syndrome	Bifid uvula, Delayed eruption of teeth, Long philtrum, Camptodactyly of 2nd-5th fingers, Umbilica...	OMIM:601803
Mosaic Trisomy 9	Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Microphthalmia, Hypoplasia of penis, Rena...	ORPHA:99776
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia	OMIM:615249
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia	ORPHA:370959
22Q11.2 Deletion Syndrome	Abnormality of the dentition, Carious teeth, Long philtrum, Umbilical hernia, Abnormal dental ena...	ORPHA:567
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis, Microphthalmia	ORPHA:35173
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral reflux, Rena...	ORPHA:959
Proximal Renal Tubular Acidosis	Enamel hypomineralization	ORPHA:47159
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Cardiac-Urogenital Syndrome	Micropenis, Patent urachus, Penoscrotal hypospadias, Enlarged kidney	OMIM:618280
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Microphthalmia	ORPHA:899
Cat Eye Syndrome	Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Microphthalmia	OMIM:115470
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Multiple Benign Circumferential Skin Creases On Limbs	Hypospadias, Microphthalmia	ORPHA:2505
Fanconi Anemia, Complementation Group C	Renal agenesis, Horseshoe kidney, Microphthalmia, Duplicated collecting system, Ectopic kidney	OMIM:227645
3Q29 Microdeletion Syndrome	Horseshoe kidney, Hypospadias, Microphthalmia	ORPHA:65286
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Micropenis, Microphthalmia	OMIM:241410
Chilton-Okur-Chung Neurodevelopmental Syndrome	Aplasia of the right hemidiaphragm, Widely spaced teeth, Ankyloglossia, Micrognathia, Wide mouth,...	OMIM:619841
Hydrolethalus	Anophthalmia, Microphthalmia	ORPHA:2189
Pallister-Hall Syndrome	Renal hypoplasia, Hydroureter, Distal urethral duplication, Hydronephrosis, Renal cyst, Microphth...	OMIM:146510
Mosaic Trisomy 1	Renal cortical cysts, Penile hypospadias, Renal cyst, Microphthalmia, Micropenis	ORPHA:1692
Fryns Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Microphthalmia, Hypospadias	ORPHA:2059
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Fanconi Anemia, Complementation Group D2	Renal agenesis, Horseshoe kidney, Renal duplication, Micropenis, Ectopic kidney, Microphthalmia, ...	OMIM:227646
Kapur-Toriello Syndrome	Micropenis, Abnormality of the urinary system, Microphthalmia	OMIM:244300
Simpson-Golabi-Behmel Syndrome, Type 1	Duplication of renal pelvis, Right ventricular hypertrophy, Nephroblastoma, Splenomegaly, Hydrone...	OMIM:312870
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Hypoplasia of the iris, Renal insufficiency, Proteinuria, Dif...	OMIM:251300
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microphthalmia	ORPHA:139471
Rodrigues Blindness	Microphthalmia	OMIM:268320
Warburg Micro Syndrome 2	Micropenis, Microphthalmia	OMIM:614225
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Teebi-Shaltout Syndrome	Horseshoe kidney, Hydronephrosis, Ureteral stenosis, Microphthalmia	OMIM:272950
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Renal dysplasia, Microphthalmia	OMIM:618571
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Fanconi Anemia, Complementation Group L	Micropenis, Unilateral renal agenesis, Renal hypoplasia, Microphthalmia	OMIM:614083
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Left ventricular hypertrophy, Hypospadias, Microphthalmia	OMIM:619148
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Hypospadias, Anophthalmia, Microphthalmia	OMIM:615877
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis, Microphthalmia	OMIM:302960
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Martsolf Syndrome 1	Micropenis, Microphthalmia	OMIM:212720
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos	ORPHA:369891
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Meckel Syndrome 14	Polycystic kidney dysplasia, Microphthalmia	OMIM:619879
Basel-Vanagaite-Smirin-Yosef Syndrome	Hydronephrosis, Hypospadias, Male urethral meatus stenosis, Microphthalmia	ORPHA:464738
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal cyst, Renal hypoplasia, Microphthalmia	OMIM:616300
1Q21.1 Microdeletion Syndrome	Hydronephrosis, Vesicoureteral reflux, Microphthalmia	ORPHA:250989
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Microphthalmia	ORPHA:284160
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Microphthalmia, Micropenis, Hypospadias, Optic nerve hypoplasia	OMIM:206900
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Williams Syndrome	Carious teeth, Dental malocclusion, Hypoplasia of the zygomatic bone, Long philtrum, Thick lower ...	ORPHA:904
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Renal hypoplasia, Renal agenesis, Horseshoe kidney, Microphthalmia, Pelvic kidney, O...	ORPHA:508498
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Mycophenolate Mofetil Embryopathy	Ectopic kidney, Microphthalmia	ORPHA:268249
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Chromosome 8Q21.11 Deletion Syndrome	Micropenis, Microphthalmia	OMIM:614230
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Camptodactyly of finger, Abnormal dental enamel morphology, Inguinal hernia, Omphalocele, Cheilitis	ORPHA:2273
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Vacterl With Hydrocephalus	Microphthalmia, Renal agenesis, Anophthalmia, Renal hypoplasia/aplasia	ORPHA:3412
Holoprosencephaly-Postaxial Polydactyly Syndrome	Renal hypoplasia/aplasia, Microphthalmia, Abnormal localization of kidney, Hypospadias, Hypoplasi...	ORPHA:2166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Pelvis-Shoulder Dysplasia	Hydronephrosis, Bilateral microphthalmos	ORPHA:2839
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Histiocytoid Cardiomyopathy	Microphthalmia, Cardiomegaly, Renal cyst, Congenital aphakia, Hepatomegaly	ORPHA:137675
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Microphthalmia	ORPHA:2250
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Cousin Syndrome	Hydronephrosis, Microphthalmia	OMIM:260660
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Trisomy 18	Hydronephrosis, Abnormality of the upper urinary tract, Microphthalmia	ORPHA:3380
Meckel Syndrome	Multicystic kidney dysplasia, Anophthalmia, Aplasia/Hypoplasia of the iris, Urethral atresia, Mic...	ORPHA:564
Ohdo Syndrome, X-Linked	Micropenis, Microphthalmia	OMIM:300895
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Alström Syndrome	Tooth agenesis, Dorsocervical fat pad, Recurrent sinusitis, Gingivitis, Abnormality of dental color	ORPHA:64
Fanconi Anemia	Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Renal insuffi...	ORPHA:84
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Optic nerve hypoplasia, Renal dysplasia, Microphthalmia	OMIM:236670
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Microphthalmia	OMIM:221900
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Fryns Syndrome	Renal agenesis, Hydronephrosis, Renal cyst, Microphthalmia, Ureteral duplication, Hypospadias	OMIM:229850
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Nephroblastoma, Microphthalmia	ORPHA:1052
Degcags Syndrome	Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ...	OMIM:619488
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Renal cyst, Vesicoureteral reflux, Hypospadias, Microphthalmia	OMIM:616975
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Microphallus...	ORPHA:468631
Linear Skin Defects With Multiple Congenital Anomalies 1	Micropenis, Chordee, Hypospadias, Microphthalmia	OMIM:309801
Holoprosencephaly	Abnormality of the urinary system, Anophthalmia, Proteinuria, Microphthalmia, Hypoplasia of penis	ORPHA:2162
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Renal hypoplasia, Microphthalmia	OMIM:620005
Jacobsen Syndrome	Macular hypoplasia, Hypospadias, Microphthalmia	OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Dubowitz Syndrome	Hypoplasia of the iris, Hypospadias, Microphthalmia	OMIM:223370
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Cohen Syndrome	Microphthalmia	ORPHA:193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Proboscis Lateralis	Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis, Anophthalmia, Micropht...	ORPHA:141099
Frontorhiny	Microphthalmia	ORPHA:391474
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Splenomegaly, Microphthalmi...	OMIM:249000
Microphthalmia With Limb Anomalies	Horseshoe kidney, True anophthalmia, Microphthalmia	ORPHA:1106
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Horseshoe kidney, Micropenis, Hypospadias, Microphthalmia	OMIM:609945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia	OMIM:614643
Oculoauricular Syndrome	Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia	OMIM:612109
Bartsocas-Papas Syndrome 1	Micropenis, Ectopic kidney, Microphthalmia	OMIM:263650
Steinfeld Syndrome	Unilateral renal dysplasia, Microphthalmia	OMIM:184705
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Roberts Syndrome	Long penis, Polycystic kidney dysplasia, Microphthalmia	ORPHA:3103
Monosomy 9Q22.3	Nephroblastoma, Microphthalmia	ORPHA:77301
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Renpenning Syndrome 1	Renal hypoplasia, Hypospadias, Phimosis, Microphthalmia	OMIM:309500
Tetraamelia Syndrome 1	Urethral atresia, Renal agenesis, Microphthalmia	OMIM:273395
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Monosomy 9P	Microphthalmia, Hypospadias, Ureteropelvic junction obstruction	ORPHA:261112
Hallermann-Streiff Syndrome	Microphthalmia	OMIM:234100
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:3186
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Skin Creases, Congenital Symmetric Circumferential, 2	Hypospadias, Ureterocele, Microphthalmia	OMIM:616734
Townes-Brocks Syndrome	Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Multiple renal cysts, Ectopic kidne...	ORPHA:857
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micropenis, Microphthalmia	OMIM:617925
Traboulsi Syndrome	Homocystinuria, Microphthalmia	OMIM:601552
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia	OMIM:608940
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Charge Syndrome	Horseshoe kidney, Vesicoureteral reflux, Anophthalmia, Hydronephrosis, Microphthalmia, Micropenis	ORPHA:138
Microphthalmia, Syndromic 1	High, narrow palate, Tooth malposition, Joint contracture of the hand, Dental crowding, Cleft upp...	OMIM:309800
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Johanson-Blizzard Syndrome	Agenesis of permanent teeth, Hypoplasia of the primary teeth, Downturned corners of mouth, Long p...	OMIM:243800
Yunis-Varon Syndrome	Bilateral microphthalmos, Renal artery stenosis, Cardiomegaly, Microphthalmia, Micropenis, Renova...	ORPHA:3472
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Basal Cell Nevus Syndrome 1	Microphthalmia	OMIM:109400
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Fraser Syndrome	Abnormality of the urinary system, Anophthalmia, Renal hypoplasia/aplasia, Urethral atresia, Micr...	ORPHA:2052
Fraser Syndrome 1	Renal hypoplasia, Bilateral microphthalmos, Anophthalmia, Renal hypoplasia/aplasia, Micropenis, H...	OMIM:219000
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Charge Syndrome	Renal hypoplasia, Renal agenesis, Horseshoe kidney, Unilateral microphthalmos, Anophthalmia, Hydr...	OMIM:214800
Chromosome 13Q14 Deletion Syndrome	Micropenis, Microphthalmia	OMIM:613884
Microphthalmia, Syndromic 2	Phthisis bulbi, Hypospadias, Anophthalmia, Microphthalmia	OMIM:300166
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Microphthalmia	ORPHA:2526
Aicardi Syndrome	Microphthalmia	ORPHA:50
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
8Q24.3 Microdeletion Syndrome	Unilateral renal agenesis, Bilateral renal hypoplasia, Bilateral microphthalmos, Vesicoureteral r...	ORPHA:508488
Fontaine Progeroid Syndrome	Micropenis, Left ventricular hypertrophy, Microphthalmia	OMIM:612289
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia	OMIM:610828
Phace Syndrome	Lens coloboma, Optic nerve hypoplasia, Microphthalmia	ORPHA:42775
Aicardi Syndrome	Microphthalmia	OMIM:304050
Hydrolethalus Syndrome 1	Hydronephrosis, Hypospadias, Microphthalmia	OMIM:236680
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Right ventricular hypertrophy, Microphthalmia	OMIM:620186
Mend Syndrome	Microphthalmia	ORPHA:401973
Pallister-Hall Syndrome	Unilateral renal agenesis, Bilateral renal agenesis, Ectopic kidney, Microphthalmia, Micropenis, ...	ORPHA:672
Myhre Syndrome	Microphthalmia	OMIM:139210
Microphthalmia, Syndromic 6	Renal hypoplasia, Anophthalmia, Microphthalmia	OMIM:607932
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Holoprosencephaly 1	Micropenis, Microphthalmia	OMIM:236100
Witteveen-Kolk Syndrome	Male urethral meatus stenosis, Microphallus, Phimosis, Microphthalmia, Hypospadias	OMIM:613406
Branchiooculofacial Syndrome	Renal agenesis, Anophthalmia, Renal cyst, Microphthalmia, Hypospadias	OMIM:113620
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Neu-Laxova Syndrome 1	Renal agenesis, Microphthalmia	OMIM:256520
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstr...	OMIM:164210
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Hydronephro...	ORPHA:261537
Mowat-Wilson Syndrome	Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Hydronephro...	ORPHA:2152
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Vesicoureteral reflux, R...	ORPHA:261552
Roberts-Sc Phocomelia Syndrome	Long penis, Horseshoe kidney, Microphthalmia, Polycystic kidney dysplasia, Hypospadias	OMIM:268300
Neuroocular Syndrome 1	Hypoplasia of the fovea, Lens coloboma, Microphthalmia	OMIM:619539
Mowat-Wilson Syndrome	Hypospadias, Abnormality of the kidney, Microphthalmia	OMIM:235730
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Norrie Disease	Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia	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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MGI Allele	Allele Type	Produced
Ambn^em1(IMPC)Mbp	Intra-exon deletion	Mice, Tissue
Ambn^{tm367295(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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 21.1 Data