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Article

Expanding the Phenotype of Syndromic SLC30A9 -Associated Disease.

American journal of medical genetics. Part A - 1 Apr 2026

Wagner Naomi E, AlAshwal Shadi M, Lenberg Jerica, Bird Lynne M, Ceulemans Sophia, Friedman Jennifer, Borooah Shyamanga

Abstract excerpt

SLC30A9 mutations are linked to Birk-Landau-Perez syndrome, which is characterized by neurodevelopmental and renal disease, thought to result from impaired zinc homeostasis. In this report, we describe a patient with a homozygous likely pathogenic SLC30A9 variant with atypical chorio-retinal degeneration, suggesting retinal involvement in SLC30A9-associated diseases. The patient has bilateral sensorineural...

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Source

Identifiers

PMID: 41293997
DOI: 10.1002/ajmga.70007

Genes

SLC30A9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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