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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
Gene mutationChromosome rearrangementEffectComments
frameshift     c.487_488insTAT, p.Glu163_Ser739delinsVal