614019.1.1

Country

Saudi Arabia

HPO Terms

Lissencephaly; Agenesis of corpus callosum; Colpocephaly ; Abnormality of neuronal migration; Hypertonia; Global developmental delay
Back to search Result
Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_017668.3:c.775del2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
614019.1.2Saudi ArabiaFemaleYesYesRelative of 614019.1.1
Back to search Result
© CAGS 2024. All rights reserved.