In this case, a homozygous mutation in the HNMT1 gene (both parents were shown to be heterozygous carrier of this variant. OMIM: 616739 (mental retardation, autosomal recessive 51 [MRT51]).
HNMT
In this case, a homozygous mutation in the HNMT1 gene (both parents were shown to be heterozygous carrier of this variant. OMIM: 616739 (mental retardation, autosomal recessive 51 [MRT51]).