Developmental and genetic diseases

*Gene map locus 19q13.2

Aase syndrome

Aase-Smith syndrome II

Anemia, congenital erythroid hypoplastic

Anemia, congenital hypoplastic, of Blackfan and Diamond

Aregenerative anemia, chronic congenital

BDS

Blackfan-Diamond syndrome

DBA

Erythrogenesis imperfecta

Red cell aplasia, pure, hereditary

[Clinical features: erythroid hypoplastic anemia; thumb malformations, urogenital abnormalities, heart defects, growth retardation, learning difficulties, strabismus, and cataract in a subset of patients]

[Inheritance: sporadic cases, autosomal dominant, autosomal recessive]