617218.1.4

Country

Lebanon

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_181783.4:c.211C>T1

Remarks

Father of 617218.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
617218.1.1LebanonGlobal developmental delay; Generalized hypotonia; Delayed puberty; Chiari type I malformationFemaleYesYes
617218.1.2LebanonGlobal developmental delay; Generalized hypotonia; Delayed puberty; Nocturnal seizures; Autistic behavior; AtaxiaFemaleYesYesSibling of 617218.1.1
617218.1.3LebanonFemaleMother of 617218.1.1
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