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GENATLAS PHENOTYPE

last update : 16-03-2016

Symbol	AMCSMA2
Location	15q22.1
Name	arthrogryposis multiplex congenita-spinal muscular atrophy2
Corresponding gene	TRIP4
Main clinical features	prenatal-onset spinal muscular atrophy (SMA), multiple congenital contractures (arthrogryposis multiplex congenita), decreased or absent fetal movements, oligohydramnios respiratory distress, and congenital bone fractures, muscle weakness, global developmental delay, microretrognathia, muscle weakness
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
	neuromuscular
Type	disease

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