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Details Of NON Syndromic Child Disease

Disease Name	phenotype	Inheritance Mode	Chr Location	Mutation Type	Gene Name	mRNA Variant	Protein Variant	Effect	Reference
Intellectual Disability, Nonsyndromic (NSUN2)	Cognitive impairment	Autosomal Recessive	5p15.31	Substitution	NSUN2	2035G>A	Gly679Arg	Missense	0/Khan et al., 2012
Intellectual Disability, Nonsyndromic (NSUN2)	Moderate-to-severe ID with speech cluttering and unable to understand the arithmetic calculations, relatively small stature, abnormal behavioral features, and developmental delay.	Autosomal Recessive	5p15.31	Missense	NSUN2	c.953A>C	p.Tyr318Ser	Amino acid Substitution	Muhammad et al., 2023/2023
Intellectual Disability, Nonsyndromic (NSUN2)	Moderate-to-severe ID with speech cluttering and facial dysmorphic features included square-shaped faces, thick scalp hair, ptosis, large ears, shallow philtrum grooves, thin upper and thick lower lips, and prominent teeth.	Autosomal Recessive	5p15.31	Splice site variant	NSUN2	c.97-1G>C	-	-	Muhammad et al., 2023/2023

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