Distal duplication 18q
Synonyms: Distal trisomy 18q | Telomeric duplication 18q | Trisomy 18qter
A rare partial autosomal trisomy characterized by a variable phenotype that includes hypotonia motor delay mild to severe intellectual disability seizures variable cerebral anomalies finger/toe syndactyly fifth finger clinodactyly strabismus short neck and dysmorphic facial features.
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
Distal duplication 18q?
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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
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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