But it's a partial deficiency. So it may not be Kelley-Seegmiller.
He's got a partial HPRT enzyme deficiency. Means he could have Kelley-Seegmiller Syndrome.
Found something.
Found something. [SEP] He's got a partial HPRT enzyme deficiency. Means he could have Kelley-Seegmiller Syndrome. [SEP] But it's a partial deficiency. So it may not be Kelley-Seegmiller.