614019.5

Country

Saudi Arabia

HPO Terms

Pachygyria; Abnormal cortical gyration; Agenesis of corpus callosum; Abnormality of neuronal migration; Global developmental delay
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_017668.3:c.658C>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
614019.6Saudi ArabiaPachygyria; Partial agenesis of the corpus callosum; Abnormality of neuronal migration; Sloping forehead; Prominent nose; Spasticity ; Drooling ; Attention deficit hyperactivity disorderMaleNoYes
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