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GENATLAS PHENOTYPE |
last update : 14-01-2009 |
Symbol | LTC4SD | |
Location | 5q35 | |
Name | leukotrične C4 synthase deficiency | |
Main clinical features | hypotonia, failure to thrive, microcephaly | |
Genetic determination | autosomal recessive | |
Prevalence | very rare | |
Function/system disorder
Type
| MCA/MR
| |
Remark(s) |