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Sotos syndrome 1

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene.
Uniprot Description A childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. Common oral findings include: premature eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism.
Mondo Term and Equivalent IDs
MONDO:0007299:  Sotos syndrome 1
SCTID:75968004: 
UMLS:CN035106: