Table 1.

Main characteristics of patients diagnosed > 16 with GD3 in French Gaucher disease registry.

	Age of 1st symptom (year)	Main symptoms	Age at diagnosis (years)	Main reason of diagnostic delay	Type of mutation
1	7.4	-Frontal/generelalized/myoclonic jerks (11 years) -Loss of intellectual abilities (15 years) -Cerebellar syndrome -Mild splenomegaly	16.4 years	-Stability of epilepsy between 11 and 15 -Late onset of intellectual disability. -Delay for definite diagnostic due to rare mutation	Saposine C
2	18.3	-PAUCI-symptomatic -Slight ophtalmoplegia -Mild Splenomgaly/hepatomegaly -Mild thrombopenia	18.5	-Moderate ophtalmoplegia	L444P/RECTL
3	0,4	-Ophtalmoplegia (falsely linked to strabism with surgical treatment) -Splenomegaly, cytopenia in childhood -Mental retardation	21	-Born in Algeria: poor access to efficient health care system	D409H/D409H
4	11	-Myoclonic seizures -Mental retardation Cerebellar syndrome	26.5	-Stable seizure until adulthood	D409H/L444P