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GENATLAS PHENOTYPE

last update : 10-10-2016

Symbol	KFS4
Location	22q12.1
Name	Klippel-Feil syndrome 4 with myopathy and facial dysmorphism
Corresponding gene	MYO18B
Main clinical features	disorder characterized mainly by severe hypotonia apparent from infancy, and Klippel-Feil anomaly primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility myopathy, mild short stature, microcephaly, and distinctive facies brain MRI was normal, but electromyography was suggestive of myopathy; muscle biopsy showed mild to focally moderate variation in myofiber size, with atrophic and hypertrophic fibers
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
	neuromuscular
Type	disease

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