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GTR Home > Conditions/Phenotypes > Amelogenesis imperfecta, type 3A

Amelogenesis imperfecta, type 3A

Synonyms: AMELOGENESIS IMPERFECTA, TYPE IIIA; AMELOGENESIS IMPERFECTA, TYPE IIIA, LOCALIZED

Summary

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene. [from MONDO]

Available tests

1 test is in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (1 available)

Molecular Genetics Tests

Sequence analysis of the entire coding region (1)

Imported from Human Phenotype Ontology (HPO)

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Abnormality of head or neck
- Anterior open-bite malocclusion
  Anterior open-bite malocclusion
  - MedGen UID: 120566
  - Concept ID: C0266060
  - Finding: Finding
  Abnormality of head or neck
  See: Feature record | Search on this feature
- Dental malocclusion
  Dental malocclusion
  - MedGen UID: 9869
  - Concept ID: C0024636
  - Finding: Anatomical Abnormality
  Abnormality of head or neck
  See: Feature record | Search on this feature
Abnormality of the musculoskeletal system
- Amelogenesis imperfecta
  Amelogenesis imperfecta
  - MedGen UID: 240
  - Concept ID: C0002452
  - Finding: Congenital Abnormality
  Abnormality of the musculoskeletal system
  See: Feature record | Search on this feature

Reviews

Clinical resources

Molecular resources

Coriell Institute for Medical Research

Consumer resources

MedlinePlus

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