| umls-concept:C0796117 | skos:definition | MSH: A syndrome that is considered as part of the spectrum of Wolf-Hirschhorn Syndrome variability. It maps to the short arm of chromosome 4, at 4p16.,JABL: Short stature, characteristic facies, microcephaly, telecanthus, prominent eyes, abnormal slanting of the palpebral fissures, hypoplastic maxilla, short philtrum, large mouth, and severe mental retardation. | lld:umls |
