*Failure to thrive (FTT) - Failure to gain weight and grow at the expected rate. *Cerebellar hypoplasia - Small cerebellum, which is the part of the brain that coordinates movement. *Liver disease - Elevated liver function tests. *Pericardial effusion - Fluid around the heart. *Peripheral neuropathy (PN) - Impaired nerve impulse transmission to the legs. Patients do not respond well to reflex tests. *Strabismus - Crossed eyes, mainly presented as infantile Esotropia *Nystagmus - Involuntary eye movements caused by Cerebellar ataxia. *Hypotonia - Weak muscle tone, commonly known as floppy baby syndrome.
PMM2 deficiency
DOCK8 deficiency
ZAP70 deficiency
NGLY1 deficiency
WNT4 deficiency
PGM3 deficiency
ZC4H2 deficiency
LRBA deficiency