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Details of RareLED ID 2049

Primary information
ID	2049
Disorder	Chediak Higashi Syndrome
Inheritance	Autosomal recessive
Organ Affected	Eye, Hair , Skin Lung
Onset	Early
Genotype-Phenotype Correlation	Nonsense mutation : c.1540 C>T, CGA>TGA, R514X in exon 5 and a one base pair deletion (del c.9893T, F3298fsX3304) in exon 43, coding for part of the CHS1 protein's BEACH domain, these two newly described mutations are expected to give rise to a severe phenotype
Refrences	15896657