Table 1.

Select rare diseases in humans with nonhuman primate models identified

Disease	Gene	Prevalence	Inheritance	Onset
Late infantile neuronal ceroid lipofuscinosis	CLN7	unknown (1/200,000–1,000,000)	Autosomal recessive	Childhood
Krabbe disease	GALC	1–9/100,000	Autosomal recessive	Neonatal, Infancy, Childhood, Adolescent, Adult
Leukodystrophy	CLCN2	< 1/1,000,000	Autosomal recessive	All ages
Pelizaiaeus-Merzbacher disease	PLP1	1/400,000	X-linked recessive	Neonatal, Infancy
Achromatopsia	PDE6C	1–9/100,000	Autosomal recessive	Neonatal, Infancy
Bardet-Beidl syndrome	BBS7	1/100,000	Oligogenic/Autosomal recessive	Neonatal, Antenatal, Infancy, Childhood
Thyroid dyshormonogenesis	TG	1–9/100,000	Autosomal recessive	Neonatal, Infancy
Type-3 von Willebrand's disease	VWF	1/200,000–500,000	Autosomal recessive	Neonatal, Infancy
Lynch syndrome	MLH1	unknown (1/2,000)	Autosomal dominant	Adult
Epidermolysis bullosa simplex	KRT5	< 1/1,000,000	Autosomal dominant/recessive	Neonatal