All individuals with variants in gene RBBP8

4 entries on 1 page. Showing entries 1 - 4.
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AscendingIndividual ID     

ID_report     

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00004046 - PubMed: Shaheen 2014, Journal: Shaheen 2014 - F yes Saudi Arabia Arab - - - - SCKL2 microphthalmia, micrognathia, microglossia, and small teeth. Bilateral basal ganglia calcification and cerebellar calcification on brain MRI 1 1 Fowzan Alkuraya
00080865 - PubMed: Trujillano 2017 no information from parents - - - - - - - - SCKL2 Seckel syndrome type 2 (OMIM:606744) 1 1 Daniel Trujillano
00291918 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 12 Mohammed Faruq
00304618 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
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