ICD-10: E70.1

monogenic disease Frasier syndrome hypermethioninemia Bowen-Conradi syndrome ornithine translocase deficiency PSAT deficiency PSPH deficiency autosomal recessive disease Kahrizi syndrome janus kinase-3 deficiency recombinase activating gene 2 deficiency Van Maldergem syndrome Ohdo syndrome Ohdo syndrome, SBBYS variant MEDNIK syndrome Yunis-Varon syndrome Miles-Carpenter syndrome Christianson syndrome Griscelli syndrome type 1 Griscelli syndrome type 3