Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
Synonyms: Syndactyly-nystagmus syndrome due to dup(2)(q31.1) | Syndactyly-nystagmus syndrome due to trisomy 2q31.1
A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.
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 December 2023
Newly diagnosed with
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication?
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