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GENATLAS PHENOTYPE

last update : 03-10-2019

Symbol	DEL8Q13
Location	8q13.3
Name	chromosome 8q13 microdeletion
Other name(s)	mesomelia-synostoses syndrome (MSS) mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type
Corresponding gene	SLCO5A1 , SULF1
Other symbol(s)	MSS
Main clinical features	characterized by mesomelic limb shortening, acral synostoses, and multiple congenital malformations
Genetic determination
Function/system disorder	osteo-articular

Remark(s)