607625.1

Country

Saudi Arabia

HPO Terms

Global developmental delay; Microcephaly; Nonprogressive encephalopathy; Seizure; Cerebral atrophy

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_006432.5:c.88G>A2

Remarks

No organomegaly; normal retina
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