All individuals with variants in gene GRIK2

14 entries on 1 page. Showing entries 1 - 14.
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00293943 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00293944 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 40 Mohammed Faruq
00380380 ?/A657T.1 PubMed: Guzman 2017, PubMed: Stoltz 2021 - F - - - - - - - NDD intellectual disability, developmental delay; ataxia; resolved hypotonia; no hypertonia; no visual impairment; no seizures; normal myelination 1 1 Johan den Dunnen
00380381 A657T.2 PubMed: Stoltz 2021 - M - - - - - - - NDD intellectual disability, developmental delay; uncoordinated gait; no hypotonia; no hypertonia; no visual impairment; no seizures 1 1 Johan den Dunnen
00380382 A657T.3 PubMed: Stoltz 2021 - M - - - - - - - NDD intellectual disability, developmental delay; uncoordinated gait; no hypotonia; no hypertonia; hypermetropia astigmatism; no seizures; normal myelination 1 1 Johan den Dunnen
00380383 A657T.4 PubMed: Stoltz 2021 - M - - - - - - - NDD intellectual disability, developmental delay, autism spectrum disorder; imbalance; resolved hypotonia; no hypertonia; no visual impairment; no seizures; normal myelination 1 1 Johan den Dunnen
00380384 A657T.5 PubMed: Stoltz 2021 - F - - - - - - - NDD intellectual disability, developmental delay; ataxia; no hypotonia; no hypertonia; no visual impairment; no seizures 1 1 Johan den Dunnen
00380385 A657T.6 PubMed: Stoltz 2021 - F - - - - - - - NDD intellectual disability, developmental delay, autistiform behavior; imbalance; no hypotonia; truncal hypertonia limbs, hypertonia limbs; no visual impairment; no seizures; normal myelination 1 1 Johan den Dunnen
00380386 T660K.1 PubMed: Stoltz 2021 - M - - - - - - - NDD global developmental delay; not ambulatory; truncal hypotonia; hypertonia limbs; nystagmus; 8m seizures; abnormal myelination 1 1 Johan den Dunnen
00380387 T660K.2 PubMed: Stoltz 2021 - M - - - - - - - NDD global developmental delay; not ambulatory; nystagmus; 7m seizures; abnormal myelination 1 1 Johan den Dunnen
00380388 T660K.3 PubMed: Stoltz 2021 - F - - - - - - - NDD global developmental delay; not ambulatory; truncal hypotonia; hypertonia limbs; cortical visual impairment; 8m seizures; abnormal myelination 1 1 Johan den Dunnen
00380389 T660R.1 PubMed: Stoltz 2021 - F - - - - - - - NDD global developmental delay; limited function (standing only); truncal hypotonia; no hypertonia; cortical visual impairment; 27m seizures; abnormal myelination 1 1 Johan den Dunnen
00380390 T660R.2 PubMed: Stoltz 2021 - M - - - - - - - NDD intellectual disability, developmental delay; ataxia; resolved hypotonia; no hypertonia; strabismus; definitive seizures not observed, but did exhibit single event during which he became unresponsive and his eyes deviated upward; abnormal myelination 1 1 Johan den Dunnen
00380391 I668T.1 PubMed: Stoltz 2021 - M - - - - - - - NDD autism spectrum disorder; N.R.; no hypotonia; no hypertonia; no seizures 1 1 Johan den Dunnen
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