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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.
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