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GENATLAS PHENOTYPE

last update : 20-03-2009

Symbol	MASA
Location	Xq28
Name	MASA syndrome
Other name(s)	L1-disease
Corresponding gene	L1CAM
Other symbol(s)	CRASH, SPG1
Main clinical features	mental retardation, aphasia, shuffling gait, adducted thumbs agenesis of corpus callosum shuffling gait is probably caused by spasticity of the lower limbs, increased reflexes; adducted thumbs are thought to be caused by hypoplastic or absent extensor pollicis longus or brevis muscles onset of speech is delayed
Genetic determination	sex linked
Related entries	HSAS
Function/system disorder	congenital malformation
	mental retardation
Type	disease

Gene product

Name	L1 neural cell adhesion molecule (L1CAM)

Remark(s)