Distal duplication 18q

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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 May 2024

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Distal duplication 18q?

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