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GENATLAS PHENOTYPE

last update : 18-08-2010

Symbol	CBSMA
Location	12q24.11
Name	congenital non-progressive (benign), spinal muscular atrophy
Corresponding gene	TRPV4
Other symbol(s)	SMAD2, DSMAC
Main clinical features	affecting lower limbs and spine muscles, presenting at birth with arthrogryposis nonprogressive congenital lower motor neuron disorder restricted to the lower part of the body, antenatal onset bilateral talipes equinovarus and flexion contractures of the knees and hips reflexes decreased or absent; no sensory abnormalities
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)