Distal deletion 7p
Synonyms: Distal monosomy 7p | Monosomy 7pter | Telomeric deletion 7p
Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability digital anomalies congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.
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
Distal deletion 7p?
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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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