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GENATLAS PHENOTYPE

last update : 10-11-21016

Symbol	FTHS
Location	5q35.1
Name	Frank-Ter Haar syndrome
Other name(s)	Melnick-Needles syndrome Borrone Dermato-Cardio-Skeletal
Corresponding gene	SH3PXD2B
Other symbol(s)	BDCS
Main clinical features	skeletal, cardiovascular, and eye abnormalities, with increased intraocular pressure, prominent eyes, and hypertelorism, thick skin, acne conglobata, dysmorphic facies, vertebral abnormalities and mitral valve prolapse brachycephaly , megalocornea, broad alveolar ridges and broad mouth; bowing of long bones, short hands
Genetic determination	autosomal recessive
Function/system disorder	dermatology
	eye
	osteo-articular
Type	disease

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