615030.2

Country

Saudi Arabia

HPO Terms

Periventricular leukomalacia; Leukodystrophy; Hypertonia; Spasticity
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_183075.3:c.947A>T2
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