Human genes for rhizomelic chondrodysplasia punctata type 3
Rhizomelic chondrodysplasia punctata type 3 [DOID:0110853]
A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2.
Synonyms: rhizomelic chondrodysplasia punctata type 3, DOID:0110853, Agps Deficiency, Alkyldihydroxyacetonephosphate Synthase Deficiency, Alkylglycerone-Phosphate Synthase Deficiency ...