1,721,766 research outputs found
Family MR-4 Exome File
No full textExome data file for the variant VPS53 Causing ID in Pakistani Famil
WES detection and analysis of SMS family
No full textThe abnormality of SMS gene could induce X chromosome linked Snyder-Robinson
mental retardation syndrome(Mental retardation, X-linked, Snyder-Robinson type, SRS
[MIM:309583]). Loss of spermine synthase enzymatic activity causes SRS. Decreased
SMS enzyme activity confirms the pathogenicity of an SMS sequence variant. SRS
shows variable phenotypes and female carriers are normal.The characteristic
features of SRS include asthenic build, facial dysmorphism with a prominent lower lip,
kyphoscoliosis, osteoporosis, and speech abnormalities. Developmental delay
usually presents as failure to meet early developmental milestones and then evolves to
moderate to profound intellectual disability(which appears to remain stable over time)
and variable motor disabilit
WES detection and analysis report of SMS gene
No full textThe abnormality of SMS gene could induce X chromosome linked Snyder-Robinson
mental retardation syndrome(Mental retardation, X-linked, Snyder-Robinson type, SRS
[MIM:309583]). Loss of spermine synthase enzymatic activity causes SRS. Decreased
SMS enzyme activity confirms the pathogenicity of an SMS sequence variant. SRS
shows variable phenotypes and female carriers are normal
Novel hemizygous missense variation in AFF2 gene underlies Fragile XE syndrome
No full textText containing method of the case report: Novel hemizygous missense variation in AFF2 gene underlies Fragile XE syndrome
Exome data file for the variant SDCBP2 gene Causing ID and neurodevelopmental delay in Pakistan
No full textwe are reporting Homozygous (c.G556T, p.Asp186Tyr) mutation in the novel candidate syndecan binding protein gene SDCBP2. SDCBP2 gene is a multi-functional gene involved in neurotransmitter, neural, and synaptic development in Pakistani family
Exome data file for the variant SDCBP2 gene Causing ID and neurodevelopmental delay in Pakistani Family
No full textwe are reporting Homozygous (c.G556T, p.Asp186Tyr) mutation in the novel candidate syndecan binding protein gene SDCBP2. SDCBP2 gene is a multi-functional gene involved in neurotransmitter, neural, and synaptic development
Replication Data for: The Genetics of Intellectual Disability Review Tables.
No full textTable 1: Estimated total number of genes inovolved in Intellectual Disability Genes from Literature search and from genome England Databas
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