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Article

Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) - the clinical and molecular summary.

European journal of medical genetics - 1 Jan 2023

Bukowska-Olech Ewelina, Glista Filip, Dinwiddie April, Pepler Alexander, Jamsheer Aleksander

Abstract excerpt

Multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) is a rare autosomal recessive genetic disease belonging to glycosylphosphatidylinositols biosynthesis defects (GPIBD), a group of recessive disorders characterized by intellectual disability, hypotonia, and seizures. Glycosylphosphatidylinositols (GPIs) are glycolipids that anchor and remodel cell proteins. These processes are highly...

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PMID: 36384198
DOI: 10.1016/j.ejmg.2022.104668

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