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GENATLAS PHENOTYPE

last update : 26/06/2006

Symbol	DSMS
Location	1p32
Name	desmosterolosis
Corresponding gene	DHCR24
Main clinical features	lethal multiple congenital anomalies, macrocephaly, hypoplastic nasal bridge, thick alveolar ridges, gingival nodules, cleft palate, total anomalous pulmonary venous drainage, ambiguous genitalia, short limbs, and generalized osteosclerosis, elevated levels of desmosterol in plasma, tissue and cultured cells
Genetic determination	autosomal recessive
Function/system disorder	congenital malformation
	metabolism/lipoprotein-lipid
	osteo-articular
Type	disease

Gene product

Name	24-dehydrocholesterol reductase