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Browse result for Hypomyelination and congenital cataract

※ introduction

    Hypomyelination-congenital cataract syndrome is a rare autosomal recessive hereditary disorder that affects the brain's white matter[1] and is characterized by congenital cataract (or cataracts that begin in the first two months of life), psychomotor development delays, and moderate intellectual disabilities. It is a type of leukoencephalopathy.[2]

Reference
Wiki: Hypomyelination and congenital cataract



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD12362Q9BYI384668
HYCC1
Hyccin
Homo sapiens