605130.5

Country

Saudi Arabia

HPO Terms

Microcephaly; Global developmental delay; Seizure; Ventricular septal defect
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Sex

Female

Family History

No

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001197104.2:c.3094G>T1

Remarks

Patient's parents are from the same tribe
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