Mucolipidosis Type IV is an autosomal recessive disorder, mainly seen in Jews of Eastern European background. A cation channel disorder, characterized by severe neurological and ophthalmologic abnormalities, ML4 usually presents during the first year of life with mental retardation, corneal opacities, and delayed motor milestones. Children with ML4 typically reach a maximum developmental age of 15 months.
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- Mucolipidosis IV Foundation ML4 Foundation, originally known as CHARM (Children's Association for Research on Mucolipidosis), reaching out to families affected with this debilitating disorder.
- Clinical Trial: The Natural History and Pathogenesis of Mucolipidosis Type IV An ongoing study into ML4, still recruiting patients in August 2006.
- Online Mendelian Inheritance in Man A detailed history of the development of knowledge of ML4, diagnosis, pathogenesis, and chromosome information.