has characteristic has characteristic has material basis in germline mutation in MAGEL2 Prader-Willi syndrome Schaaf-Yang syndrome https://github.com/monarch-initiative/mondo/issues/3338 https://www.malacards.org/card/schaaf_yang_syndrome MESH:C535385 MONDO:0014243 GARD:0013316 arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies PWS due to a point mutation MEDGEN:1807366 Chitayat-Hall syndrome SHFYNG Schaaf-Yang syndrome arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies OMIM:615547 DOID:0111715 Prader-Willi syndrome due to point mutation UMLS:C5575066 Orphanet:398069 OMIM:208080 point_mutation