Condition: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
rs775085213
in
SLC6A17
gene and
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
PMID 25704603
2015 Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.