has material basis in germline mutation in RPS6KA3 epilepsy scoliosis Coffin-Lowry syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/9285 https://rarediseases.info.nih.gov/diseases/6123/coffin-lowry-syndrome https://rarediseases.info.nih.gov/diseases/8589/coffin-syndrome-1 https://www.malacards.org/card/coffin_lowry_syndrome OMIM:303600 mental retardation with osteocartilaginous abnormalities MESH:D038921 UMLS:C0265252 GARD:0006123 Coffin-Lowry syndrome CLS MEDGEN:75556 icd11.foundation:380089065 MESH:C536435 NCIT:C84643 lean spastic dwarfism DOID:3783 Coffin syndrome 1 Coffin-Lowry syndrome, X-linked dominant Coffin syndrome NANDO:2200952 dwarfism, lean spastic type A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe. MONDO:0010561 Coffin Lowry Syndrome NANDO:1200660 intellectual disability with osteocartilaginous abnormalities ICD9:759.89 Orphanet:192 NORD:983 SCTID:15182000 obsolete syndromic genetic obesity X-linked syndromic intellectual disability