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GENATLAS PHENOTYPE

last update : 13-12-2019

Symbol	SEMDSH
Location	20p13
Name	spondyloepimetaphyseal dysplasia, Shohat type
Corresponding gene	DDRGK1
Main clinical features	chondrodysplasia characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distention with hepatosplenomegaly
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

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