Table 1 Demographic data and type of presentation of the studied group

Age of onset (years)

Range

1-18

Mean ± SD

9.92 ± 0.37

Median ± IR

10 ± 4

Age at presentation (years)

Range

1.0 -19

Mean ± SD

10.96 ± 0.45

Median ± IR

10 ± 4

Sex (M/F)

43/34

Consanguinity No. (%)

56/71 (78.9%)

Number of families

50

Residency (73)- No. (%)

Upper Egypt

25 (34.2%)

Lower Egypt

30 (41.1%)

Cairo

12 (16.4%)

Non-Egyptian

6 (8.2%)

Type of presentation No. (%)

Hepatic

35 (45.5%)

Neurological

6 (7.8%)

Combined

9 (11.7%)

Asymptomatic

27 (35.1%)