Developmental and genetic diseases

*Gene map locus 17pter-p13

Aminoacylase 2 deficiency

Aspartoacylase deficiency

Canavan-Van Bogaert-Bertrand disease

Spongy degeneration of central nervous system

[Clinical features: atonia of neck muscles; hypotonia; hyperextension of legs and flexion of arms; blindness; severe mental defect; megalocephaly; death by 18 months on the average]

[Inheritance: autosomal recessive]