There may be some temporal pallor in the optic nerves. Nystagmus and strabismus may be present. Systemic Features: No systemic disease has been reported.
[disorders.eyes.arizona.edu]
[…] type 3 Paris-Trousseau thrombocytopenia Congenital generalized lipodystrophy type 4 Cataract ataxia deafness Multiple epiphyseal dysplasia 3 Pfeiffer Palm Teller syndrome Panhypopituitarism
[checkrare.com]
MLH1, CDKN2A, MSH2, PALB2,STK11, TP53 Pancreatic Cancer and Peutz Jeghers syndrome NGS of 10 gene panel: APC, ATM, BRCA1, BRCA2, MLH1, CDKN2A, MSH2, PALB2, STK11, TP53 Panhypopituitarism
[pentacorelab.hu]