Paternal 20q13.2q13.3 microdeletion syndrome
Synonyms: Paternal del(20)(q13.2q13.3) | Paternal monosomy 20q13.2q13.3
Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation microcephaly intractable feeding difficulties mild psychomotor retardation hypotonia and facial dysmorphism.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Paternal 20q13.2q13.3 microdeletion syndrome?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
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Clinical Trials
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