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.

Contemporary Nomenclature for ML II and ML III (a) Disorder Affected Gene Chromosome ML II [alpha]/[beta] GNPTAB 12q23.3 ML III [alpha]/[beta] GNPTAB 12q23.3 ML III [gamma] GNPTG 16p13.3 Disorder Previous Nomenclature ML II [alpha]/[beta] ML II, I-cell disease ML III [alpha]/[beta] ML IIIA, Pseudo-Hurler polydystrophy ML III [gamma] ML IIIC, ML III variant Abbreviations: ML II, mucolipidosis type II; ML III, mucolipidosis type III.

Mucolipidosis type III [alpha]/[beta]: the first characterization of this rare disease by autopsy