270200.2.1

Lebanon

Scaling skin; Pruritus; Palmoplantar hyperkeratosis; Motor delay; Pneumonia; Respiratory failure; Generalized hypotonia

Female

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000382.3:c.710G>A	2		Sjogren-Larsson Syndrome

The patient had a Lebanese mother and a Syrian-Mexican father.