Phenotypes associated with the disease rhizomelic chondrodysplasia punctata type 3 (OMIM:600121):
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: TAS. (OMIM:600121)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. (OMIM:600121)
- Short femur (HP:0003097): An abnormal shortening of the femur. Evidence: TAS. (OMIM:600121)
- Short humerus (HP:0005792): Underdevelopment of the humerus. Evidence: TAS. (OMIM:600121)
- Disproportionate short-limb short stature (HP:0008873): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: TAS. (OMIM:600121)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:9553082)
- Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts (HP:6000427): Activity of alkyl-dihydroxyacetonephosphate (DHAP) synthase below the lower limit of normal in cultured fibroblasts. Evidence: PCS. Frequency: 1/1. (PMID:9553082)
- Epiphyseal stippling (HP:0010655): The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. Evidence: TAS. (OMIM:600121)