615030.1

Country

Lebanon

HPO Terms

Neurodevelopmental delay; Ataxia; Spastic diplegia; Aplasia/hypoplasia of the extremities
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Sex

Unknown

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_183075.3:c.533G>C2
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