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GENATLAS PHENOTYPE

last update : 11-09-2018

Symbol	BLMLS
Location	17p11.2
Name	Bloom syndrome-like
Other name(s)	microcephaly, growth restriction, and increased sister chromatid exchange
Corresponding gene	TOP3A
Other symbol(s)	MGRISCE2
Main clinical features	intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange multiple cafe-au-lait patches were observed in some patients, but none had a malar rash mild developmental delay, decreased subcutaneous fat, recurrent infections dysmorphic facial features, including frontal bossing and progeroid features
Genetic determination	autosomal recessive
Function/system disorder
Type	disease

Remark(s)