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GENATLAS PHENOTYPE

last update : 05-06-2013

Symbol	YVS
Location	6q21
Name	Yunis-Varon syndrome
Other name(s)	cleidocranial dysplasia with micrognathia, absent thumbs and distal aphalangia
Corresponding gene	FIG4
Main clinical features	limb defects, ossification defects, generalized hypotrichosis, and frequently a severe neonatal course cleidocranial dysplasia (absent clavicles, macrocrania, diastasis of sutures), micrognathia, absent thumbs and distal phalanges of fingers, hypoplasia of proximal phalanx and absence of distal phalanx of the big toes, pelvic dysplasia, bilateral hip dislocation
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
	dermatology
Type	disease

Remark(s)