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HGNC

GENATLAS PHENOTYPE

last update : 7/07/2006

Symbol	HLTS
Location	20q13.33
Name	hypotrichosis-lymphedema-telangiectasia syndrome
Corresponding gene	SOX18
Main clinical features	total alopecia at age 6 months, with absent eyebrows and eyelashes, skin over the hands and feet thin and transparent and progressively developed, lymphedema of the legs
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
	dermatology
Type	disease

Gene product

Name	SRY (sex determining region Y)-box 18