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Amelogenesis imperfecta hypomaturation type 2A3(AI2A3)

MedGen UID:
416381
•Concept ID:
C2750771
•
Disease or Syndrome
Synonyms: Amelogenesis imperfecta, hypomaturation type, IIA3; Amelogenesis imperfecta, type IIA3
 
Gene (location): WDR72 (15q21.3)
 
Monarch Initiative: MONDO:0013181
OMIM®: 613211

Definition

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene. [from MONDO]

Clinical features

From HPO
Amelogenesis imperfecta
MedGen UID:
240
•Concept ID:
C0002452
•
Congenital Abnormality
A developmental dysplasia of the dental enamel.
See: Feature record | Search on this feature
Hypomature dental enamel
MedGen UID:
869122
•Concept ID:
C4023540
•
Finding
A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.
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Enamel hypomineralization
MedGen UID:
1802594
•Concept ID:
C5690820
•
Disease or Syndrome
A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.
See: Feature record | Search on this feature

Supplemental Content