Microcephaly, primary autosomal recessive, 5
OMIM:608716Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | ASPM |
|---|---|
| Reference transcript | NM_018136.4 |
| DNA Change | c.4195_4196insA |
| A.A. Change | p.Thr1399AsnfsX20 |
| Exon/Intron | exon 18 |
| Mutation Type | insertion |
| Reference | Desir J, Cassart M, David P, Van Bogaert P, Abramowicz M.Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. Am J Med Genet A. 2008 Jun 1;146A(11):1439-43. |