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8p11.2 deletion syndrome

rare

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

Identifiers
MONDO:0016657 Orphanet:251066
Part of
Partial deletion of the short arm of chromosome 8
Also known as
Del(8)(p11.2) · monosomy 8p11.2

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