616801.8.3

Country

Palestine; United Arab Emirates

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_032504.1:c.8525G>A1

Remarks

Mother of 616801.8.1 (Emirati of Palestinian origin)

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
616801.8.1Palestine; United Arab EmiratesHypotonia; Microcephaly; Abnormal facial shape; Global developmental delay; Absent speech; Intellectual disability; Seizure; ScoliosisFemaleYesProband (Emirati of Palestinian origin)
616801.8.2Palestine; United Arab EmiratesMaleFather of 616801.8.1 (Emirati of Palestinian origin)
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