8p11.2 deletion syndrome
Synonyms: Del(8)(p11.2) | Monosomy 8p11.2
8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis dysmorphic features growth delay and hypogonadotropic hypogonadism.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
8p11.2 deletion syndrome?
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Project 8P Foundation
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Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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