Microcephalic Osteodysplastic Primordial Dwarfism, Type I

About the Disease
Microcephalic Osteodysplastic Primordial Dwarfism, Type I, also known as taybi-linder syndrome, is related to lowry-wood syndrome and isolated growth hormone deficiency, type ia, and has symptoms including seizures and dry skin. An important gene associated with Microcephalic Osteodysplastic Primordial Dwarfism, Type I is RNU4ATAC (RNA, U4atac Small Nuclear), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and mRNA Splicing - Minor Pathway. Affiliated tissues include bone, eye and brain, and related phenotypes are intellectual disability and spasticity

Common Targets
CLK4 | RNU4ATAC | CLK1 | CLK2

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