There is no cure for<unk> . Treatment involves management of the symptoms that are apparent in each individual, including Physical Therapy to improve core strength and mobility, Occupational Therapy for coordination, Speech Therapy for talking and eating.
PMM2 deficiency
DOCK8 deficiency
ZAP70 deficiency
NGLY1 deficiency
WNT4 deficiency
PGM3 deficiency
ZC4H2 deficiency
LRBA deficiency