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GENATLAS PHENOTYPE

last update : 15-03-2016

Symbol	AMCSMA3
Location	10q22.1
Name	arthrogryposis multiplex congenita-spinal muscular atrophy3
Corresponding gene	ASCC1
Main clinical features	prenatal-onset spinal muscular atrophy (SMA), multiple congenital contractures (arthrogryposis multiplex congenita), decreased or absent fetal movements, polihydramnios respiratory distress, and congenital bone fractures, muscle weakness, global developmental delay, microretrognathia, muscle weakness, patent ductus arteriosus or foramen ovale
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
	mental retardation
	osteo-articular
Type	disease

Remark(s)