610330.G.1

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Country

Arab

HPO Terms

Microcephaly; Global developmental delay; Intellectual disability; Spasticity; Seizure; Brain atrophy; Cerebral calcification; Abnormal cerebral white matter morphology
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Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_032193.4:c.205C>T4
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Remarks

2 unrelated Arab patients

References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.