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GENATLAS PHENOTYPE

last update : 24-08-2016

Symbol	BMFND
Location	9q22.32
Name	bone marrow failure and neurological dysfunction
Corresponding gene	ERCC6L2
Other symbol(s)	BMFS2
Main clinical features	developmental delay and microcephaly, bone-marrow-failure syndrome trilineage bone marrow failure, mental retardation
Genetic determination	autosomal recessive
Function/system disorder	hematology
	neurology
Type	disease

Remark(s)