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GENATLAS PHENOTYPE

last update : 09-03-2011

Symbol	ACLS2
Location	15q26.1
Name	acrocallosal syndrome 2
Corresponding gene	KIF7
Other symbol(s)	JBTS12
Main clinical features	postaxial polydactyly, hallux duplication, macrocephaly, absence of corpus callosum, and severe mental retardation
Genetic determination	autosomal recessive
Related entries	including Joubert syndrome 12
Function/system disorder	neurology
	osteo-articular
Type	MCA/MR

Remark(s)