Several genes have been implicated in the etiology of Walker-Warburg syndrome, and others are as yet unknown.

He also published an article on Lissencephaly, which became known as Walker-Warburg syndrome after publication of further articles on the disorder by Mette Warburg.

Cerebellar hypoplasia may be associated with other disorders including Dandy-Walker syndrome, Werdnig-Hoffmann syndrome and Walker-Warburg syndrome.

Cobblestone lissencephaly is typically seen in three different human congenital muscular dystrophy syndromes: Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, and muscle-eye-brain disease.

They might also occur in infants with congenital hypothyroidism and in a few other muscle disorders; for example, the Manitoba group reported a false positive in an infant with a congenital myopathy as part of the Walker-Warburg syndrome.