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.