distribution was found among patients. Both age of the patients, age of onset of the disease and gender have no significant relation with either homozygosity vs. double heterozygosity or the different genotype groups. The most common mutations found in this study were L444P/L444P (homozygous) and L444P/IVS2+1 (double heterozygous); 8 patients each (40%) followed by L444P/D409H (double heterozygous) in 3 patients (15%) whereas N370S/N370S (homozygous) was the least mutation found in only 1 patient (5%). Allele frequency showed that L444P was found in 67.5% of studied chromosomes, IVS2+1 in 20% chromosomes, D409H in 7.5% chromosomes, whereas N370s was elicited in only 5% chromosomes. As for family history we found that 80% of cases had positive consanguinity while 20% negative, in 45% of patients parents were first cousins. All homozygous cases showed positive consanguinity, 9 cases of 9, whereas only 7 cases of 11 of the double heterozygous showed positive consanguinity. Also all patients with the genotypes L444P/L444P and N370S/N370S were from consanguineous parents; 8 cases of 8 and 1 case of 1 respectively. On the other hand all patients with the genotype L444P/D409H had negative consanguinity; 3 cases of 3, while the genotype L444P/IVS2+1 showed 7 cases of 8 with positive consanguinity and only 1 case with negative consanguinity. Conclusion: Gaucher's disease is the most common glycolipid storage disorder. The most common mutations found in our study are L444P/L444P homozygous and L444P/IVS2+1 double heterozygous. L444P is the most common allele. Glucocerbrosidase enzyme assay results are helpful in interpreting mutation analysis results. Mutation analysis is the method of choice for identification of Gaucher's disease carriers; common mutation screening is the method of choice for carrier detection. Both age of the patients and onset of the disease have no significant relation with either homozygosity vs. double heterozygosity or the different genotype groups. Gaucher's disease occurs with equal frequency in males and females. Patients with homozygous gene mutations tend to have consanguineous parents, also mutations L444P/L444P and N370S/N370S tend to have consanguineous parents. Neurological manifestations, growth retardation and chest symptoms are the most common clinical conditions reported in studied cases, less frequently bone & cardiac affection are reported. None of the previous conditions are significantly associated with certain genotype.