National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Mucolipidosis IV is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- ML Disorder IV
- ML IV
- Berman Syndrome
- Ganglioside Sialidase Deficiency
- Ganglioside Neuraminidase Deficiency
- Neuraminidase Deficiency
Mucolipidosis IV is a rare metabolic disorder characterized by intellectual disability; severe impairment in the acquisition of skills requiring the coordination of muscular and mental activities (psychomotor retardation); diminished muscle tone (hypotonia); clouding (opacity) of the clear portion of the eyes through which light passes (cornea); and progressive degeneration of the nerve-rich membrane lining the eyes (retinal degeneration). Mucolipidosis IV is inherited as an autosomal recessive genetic trait and caused by mutations in the MCOLN1 gene.
MucolipidosisType IV Foundation
719 E. 17th Street
Brooklyn, NY 11230
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 5/22/2014
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