Phenotypes associated with the disease platelet-activating factor acetylhydrolase deficiency (OMIM:614278):
- Platelet-activating factor acetylhydrolase deficiency (HP:0040175): Reduced level of platelet-activating factor acetylhydrolase. Evidence: PCS. (PMID:8675689)
- Increased level of platelet-activating factor (HP:0040178). Evidence: PCS. (PMID:10194471)
- 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:8675689)