From: Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder
Genetic variant
Frequency
Glu198Lys
19
Glu200Lys
7
Glu420Lys
4
Asp251Ala
2
Asp251His
1
Asp251Try
Asp251Val
Glu197Lys
Glu200_Pro201delinsGlyHis
Trp207Arg
Total
38