Flecked retina associated with café au lait spots, microcephaly, epilepsy, short stature, and ring 17 chromosome.
Gass
J D
JD
Taney
B S
BS
D000328:Adult; D002886:Chromosomes, Human, Pair 17; D004827:Epilepsy / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008297:Male; D008548:Melanosis / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D012160:Retina / Q000473:pathology; D015593:Retinal Drusen / Q000235:genetics* / Q000473:pathology; D012303:Ring Chromosomes