608097.1.1

Country

Egypt

HPO Terms

Severe global developmental delay; Autistic behavior; Microcephaly; Abnormal facial shape; Strabismus; Hypotonia; Seizure; Dilation of lateral ventricles; Partial agenesis of the corpus callosum; Abnormal cerebral white matter morphology
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_006420.3:c.2776C>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
608097.1.2EgyptSevere global developmental delay; Autistic behavior; Microcephaly; Abnormal facial shape; Strabismus; Hypotonia; Seizure; Dilation of lateral ventricles; Partial agenesis of the corpus callosum; Abnormal cerebral white matter morphologyMaleYesYesSecond-cousin of 608097.1.1
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