Source:http://linkedlifedata.com/resource/umls/id/C0265252
JABL: Mental and somatic retardation in association with characteristic facies, large soft hands, and various bone abnormalities. A variant syndrome consists of growth and mental retardation, nail hypoplasia, hirsutism, and coarse facies with a large mouth, macroglossia, and bushy eyebrows.,NCI: An inherited syndrome caused by mutations in the RPS6KA3 gene. It is characterized by mental retardation, developmental delay, microcephaly, short stature and kyphoscoliosis.,MSH: A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.