id	author	title	date	pages	extension	mime	words	sentence	flesch	summary	cache	txt
hls-13440	Alkhalaf, Abdullah Musallam; Alshaqaq, Moayad Ahmed; Jradi, Nadia; Aljaziri, Ahmad Hassan; Alsultan, Essa Sultan	Novel clinical findings of neurodevelopmental disorder linked to HPDL gene mutation: a case report from Saudi Arabia	2025	3	.pdf	application/pdf	1943	118	47	Case Report Hereby, we report a 19-month-old male with global develop- mental delay, epilepsy, laryngomalacia, S/p arytenoidectomy, swallowing dysfunction, spasticity, thin corpus callosum on MRI brain, and confirmed homozygous HPDL gene mutation on genet- ic testing. +966.569208088. E-mail: Nadia.jradi@kfu.edu.sa Key words: HPDL gene mutation, neurodevelopmental delay, spasticity, hypotonia, genetic neurodevelopmental disorders.	cache/hls-13440.pdf	txt/hls-13440.txt