Condition: Mild Mental Retardation


rs1555639076 in BPTF gene and Mild Mental Retardation PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs786200963 in CACNA1A gene and Mild Mental Retardation PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

rs137854544 in CTSA gene and Mild Mental Retardation PMID 8968752 1996 Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.

PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.

PMID 24769197 2014 Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.

rs797045140 in IQSEC2 gene and Mild Mental Retardation PMID 26733290 2016 A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.

rs760378316 in KPNA7 gene and Mild Mental Retardation PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs1034395178 in LZTR1 gene and Mild Mental Retardation PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1057516048 in NSD1 gene and Mild Mental Retardation PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs312262717 in SPG11 gene and Mild Mental Retardation PMID 19194956 2009 SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.