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GENATLAS PHENOTYPE

last update : 20-03-2013

Symbol	SHFM10
Location	17p13.3
Name	split hand/foot malformation associated locus 10
Other name(s)	SHFM and long bone deficiency 3
Corresponding gene	BHLHA9
Other symbol(s)	SHFLD3
Main clinical features	split hand/foot malformation and long bone deficiency, usually involving the tibia, PMID: 18493797,, PMID: 22147889 one case with complete radial agenesis, PMID: 23202277
Genetic determination	chromosomal
	autosomal dominant
Function/system disorder
Type	MCA/MR

Remark(s)