microcephaly Amish type (Amish lethal microcephaly)

Genetics

• autosomal recessive
• associated with defects in SLC25A19

Clinical manifestations

• severe congenital microcephaly
• death within the first year

Laboratory

• urine 2-ketoglutaric acid: severe 2-ketoglutaric aciduria

More general terms

• microcephaly
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/607196