Most are enzyme deficiencies (inborn errors of metabolism)
Phenotype is generally consistent
Symptoms often severe
Consanguinity common: descend from same ancestor, related, inbred
Most enzymes deficiencies (inborn errors of metabolism)
Phenotype is usually consistent, especially within a family
Symptoms often severe: many disorders are present at birth, if untreated they are often lethal
Consanguinity common (relatedness, shared blood); such disorders show up when inbreeding or linebreeding is used
Cull the homozygote affected
Both carriers are obligate carriers then may cull or do not breed together
Variable expressivity: how much of the gene is shown, dimmer switch on light
Reduced penetrance: whether the gene shows or not, off/on switch