| Birth prevalence | per 10, 000 | Evidence of consanguinity | Evidence of ethnicity founder effect | Representative of whole country | Study period | Age at diagnoses | Cases born during study period Ɨ | Denominator = live births | Recommended enzymatic analysis | Quality |
---|---|---|---|---|---|---|---|---|---|---|---|
Australia KOL [27] | 1 per 253,000 | 0.04* | NR | NR | Y | 24 (1980-2013) | 0-45 | Y | Y | YÆ— | ungraded |
Germany [32] | 1 per 263,000* | 0.0380* | NR | Y | Y | 15 (1980-1995) | NR | NR | Y | YÆ— | medium |
UAE (Emirates) [25] | 1 per 71, 000 | 0.14* | Y | NR | N | 15 (1995-2010) | NR | Y | Y | YÆ— | medium |
Australia [31] | 1 per 201, 000 | 0.0497* | NR | NR | Y | 17 (1980-1996) | 0-19 | NÆ— | Y | Y | medium |
Canada (BC) [30] | 1 per 207,000* | 0.048* | NR | NR | N | 24 (1972-1996) | NR | NR | Y | Y | medium |
Japan (POR) [35] | 1 per 500,000 | 0.02* | NR | NR | unclear | 20 (1991-2011) | NR | NR | Y | Y | ungraded |
Australia (W) [18] | 1 per 641, 000 | 0.0156* | NR | NR | N | 27 (1969-1996) | NR | Y | Y | unclear | medium |
Netherlands [37] | 1 per 459, 000* | 0.022* | NR | NR | Y | 26 (1970-1996) | NR | Y | Y | unclear | medium |
Taiwan [38] | 1 per 304,000 | 0.033* | NR | NR | Y | 20 (1984-2004) | NR | NR | Y | unclear | low |
UK (NI) [17] | 1 per 76, 000 | 0.13* | NR | NR | N | 27 (1958-1985) | NR | NR | Y | unclear | low |
Brazil (KOL) [36] | 1 per 1,179,000* | 0.009* | NR | NR | Y | 9 (2004-2013) | 1-6 | Y | Y | NR | ungraded |
Canada (BC) [41] | 1 per 216, 000 | 0.046* | NR | NR | N | 34 (1952-1986) | NR | NR | Y | NR | low |