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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 5/09/2006
Symbol RCDP3
Location 2q33
Name rhizomelic chondrodysplasia punctata type 3
Other name(s) alkyldihydroxyacetonephosphate synthase deficiency
Corresponding gene AGPS
Main clinical features microcephaly, short proximal arms, bilateral cataract, failure to thrive
Genetic determination autosomal recessive
Function/system disorder metabolism/lipoprotein-lipid
osteo-articular
eye
Type disease
Gene product
Name alkylglycerone phosphate synthase