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Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2(AIH3, FORMERLY)

MedGen UID:
336845
Concept ID:
C1845051
Disease or Syndrome
Synonyms: AIH3 ( formerly); AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE; Amelogenesis imperfecta 3, hypoplastic type (formerly); Enamel hypoplasia, X-linked
Modes of inheritance:
X-linked inheritance
MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.
 
Cytogenetic location: Xq22-q28
OMIM®: 301201

Clinical features

Amelogenesis imperfecta
MedGen UID:
240
Concept ID:
C0002452
Congenital Abnormality
A developmental dysplasia of the dental enamel.
Amelogenesis imperfecta
MedGen UID:
240
Concept ID:
C0002452
Congenital Abnormality
A developmental dysplasia of the dental enamel.

Recent clinical studies

Clinical prediction guides

Nusier M, Yassin O, Hart TC, Samimi A, Wright JT
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2004 Feb;97(2):220-30. doi: 10.1016/S1079210403005031. PMID: 14970781

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