mucolipidosis type II

mucolipidosis type II

Abbreviation: ML II
A rare autosomal recessive disease that results in death in infancy or early childhood. Characteristic findings include severe mental retardation, poor muscle tone, kyphosis, and coarsened facial features.
Synonym: I cell disease
See also: mucolipidosis
References in periodicals archive ?
1,4,11,12) Mucolipidosis type II [alpha]/[beta] and ML III [alpha]/[beta], the principal focus of the current report, are the result of mutations in the gene coding for the [alpha]/[beta] subunit where the catalytic domain resides.