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GENATLAS PHENOTYPE

last update : 08-10-2013

Symbol	SPG52
Location	14q12
Name	spastic paraplegia 52
Other name(s)	congenital spastic tetraplegia 6
Corresponding gene	AP4S1
Other symbol(s)	CPSQ6
Main clinical features	neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development dysmorphic features included a prominent and bulbous nose, wide mouth, and coarse features neonatal hypotonia and severe cognitive impairment and progressive, early childhood onset, spastic paraplegia, microcephaly, short stature, facial dysmorphism
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Gene product

Name	adaptor-related protein complex 4, sigma 1 subunit

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