Autosomal recessive disease
genetic disease characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop
Warburg micro syndrome
mitochondrial DNA depletion syndrome 1
Oliver–McFarlane syndrome
pyridoxine-dependent epilepsy
retinal degeneration associated with rhodopsin mutations
Sensenbrenner syndrome
triple-A syndrome
Yunis-Varon syndrome
ZAP70 deficiency
CHIME syndrome
Behr syndrome
Bernard-Soulier syndrome
Usher syndrome
Netherton syndrome
pseudo-TORCH syndrome
Van den Ende-Gupta syndrome