Genetics

MEGDEL syndrome

OPRM1 gene

Vitamin D-dependent rickets

TFAP2A gene

CDKN1B gene

COL4A1 gene

Combined malonic and methylmalonic aciduria

Woodhouse-Sakati syndrome

Autosomal dominant partial epilepsy with auditory features

MED13L syndrome

Amyotrophic lateral sclerosis

Citrullinemia