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	<title>splice junction variant &#8211; BIOENGINEER.ORG</title>
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		<title>Novel EEF1D Splice Variant Behind Severe Neurodevelopmental Disorder in Iranian Siblings</title>
		<link>https://bioengineer.org/novel-eef1d-splice-variant-behind-severe-neurodevelopmental-disorder-in-iranian-siblings/</link>
		
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		<pubDate>Sun, 25 Oct 2026 01:02:54 +0000</pubDate>
				<category><![CDATA[Biology]]></category>
		<category><![CDATA[autosomal recessive]]></category>
		<category><![CDATA[consanguinity]]></category>
		<category><![CDATA[eEF1BδL]]></category>
		<category><![CDATA[EEF1D]]></category>
		<category><![CDATA[heat shock response]]></category>
		<category><![CDATA[intellectual disability]]></category>
		<category><![CDATA[microcephaly]]></category>
		<category><![CDATA[NEDTCHAL]]></category>
		<category><![CDATA[neurodevelopmental disorder]]></category>
		<category><![CDATA[splice junction variant]]></category>
		<category><![CDATA[translation elongation factor]]></category>
		<category><![CDATA[whole-exome sequencing]]></category>
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					<description><![CDATA[Whole exome sequencing in a consanguineous Iranian family has identified a novel homozygous splice junction loss variant in EEF1D in two siblings with severe neurodevelopmental delay, microcephaly, and seizures, the first report of an EEF1D-associated disorder in the Iranian population.]]></description>
		
		
		
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