All individuals with variants in gene GPR56

13 entries on 1 page. Showing entries 1 - 13.
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00269878 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Seizures (HP:0001250); Microcephaly (HP:0000252) 1 1 IMGAG
00291503 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00291504 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00291505 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00291506 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 179 Mohammed Faruq
00291507 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 70 Mohammed Faruq
00291508 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00304524 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 7 Mohammed Faruq
00304525 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00307932 17DG0762 PubMed: Anazi 2017 simplex case F - - - - - - - ID see paper; ..., Global developmental delay; Neonatal hypotonia, Feeding difficulties, Abnormality of the cerebral white matter 1 1 Johan den Dunnen
00387863 M8900239 PubMed: Hu 2019 family, 3 affected individuals, third cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, no microcephaly, epilepsy 1 3 Johan den Dunnen
00403854 TF011 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - NDD - 1 1 Johan den Dunnen
00453025 Fam2 Journal: Paracha 2024 4-generation family, 3 affected (F, 2M), heterozygous carrier parents/relatives F;M yes Pakistan - - - - - NDD severe intellectual disability, global motor delay, developmental delay, ataxic gait, absent or delayed language, hypotonia, aggressive behaviour 1 3 Muhammad Umair
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