610217.1

Country

United Arab Emirates

HPO Terms

Developmental regression; Hypertonia; Failure to thrive; Scoliosis; Abnormality of the skin

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004035.7:c.1165A>G2
NM_014363.6:c.2143C>A1
NM_014363.6:c.5732C>A1

Remarks

Reported with a variant in PLA2G6: UC003aux.1:c.154G>A (p.V52M). Could not be identified with HGVS. Cousin has spina bifida and hydrocephalus.
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