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GENATLAS PHENOTYPE

last update : 13-01-2022

Symbol	AGMCX2
Location	Xq11.1
Name	arthrogryposis multiplex congenita 2
Corresponding gene	ZC4H2
Main clinical features	fetal akinesia, antenatal spinal muscular atrophy hypomyelinating peripheral neuropathies flexion contractures of elbows or knees, cyphoscoliosis, camptodactyly, equinovarus feet, intellectual disability, spasticity, seizures
Genetic determination	sex linked
Function/system disorder	mental retardation
	neuromuscular
Type	disease

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