Amelogenesis imperfecta type 2

Synonyms

Amelogenesis imperfecta hypomaturation type

Modes of inheritance

Autosomal recessive inheritance

Autosomal recessive inheritance

MedGen UID: 141025, Concept ID: C0441748, Intellectual Product

Source: Orphanet

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).

(Orphanet)
X-linked dominant inheritance

X-linked dominant inheritance

MedGen UID: 376232, Concept ID: C1847879, Finding

Source: Orphanet

A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.

(Orphanet)