Disease

rhizomelic chondrodysplasia punctata type 3

Definition
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
  • AGPS deficiency
  • Alkyldihydroxyacetonephosphate Synthase Deficiency
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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Associated Models