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GENATLAS PHENOTYPE

last update : 06/02/2012

Symbol	CPSQ5
Location	1p13.2
Name	Cerebral Plasy Spastic Quadriplegic 5
Corresponding gene	AP4B1
Main clinical features	severe intellectual disability, absent speech, shy character, stereotypic laughter, muscular hypotonia that progressed to spastic paraplegia, microcephaly, foot deformity, decreased muscle mass of the lower limbs, inability to walk, and growth retardation.
Genetic determination	autosomal recessive
Function/system disorder
Type	disease

Gene product

Name	adaptor-related protein complex 4, beta 1 subunit

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
frameshift			c.487_488insTAT, p.Glu163_Ser739delinsVal

Remark(s)