rhizomelic chondrodysplasia punctata, type 2; peroxisomal dihydroxyacetonephosphate acyltransferase deficiency

Genetics

• associated with defects in dihydroxyacetone phosphate acyltransferase (GNPAT)

Clinical manifestations

• rhizomelic shortening of femur & humerus
• vertebral disorders
• cataracts
• cutaneous lesions
• severe mental retardation

Laboratory

• dihydroxyacetone phosphate acyltransferase in fibroblasts

More general terms

• rhizomelic chondrodysplasia punctata

Database

• OMIM: https://mirror.omim.org/entry/602744
• OMIM: https://mirror.omim.org/entry/222765