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extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

Disease Summary
Associated Targets ()

Mondo Description Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.
Mondo Term and Equivalent IDs
MONDO:0007588:  extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
MESH:C565032: 
Orphanet:1964: 
UMLS:C1851412: