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Article

A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature.

Ophthalmic genetics - 1 Feb 2025

Javidi Eileen, Javidi Simon, Antaki Fares, Campeau Philippe M, Ospina Luis H

Abstract excerpt

INTRODUCTION: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a recently described syndromic disease linked to ZMIZ1 genetic variants. We present a novel ZMIZ1 variant associated with a phenotype of NEDDFSA in a pediatric patient presenting with multiple anomalies including bilateral congenital ptosis and blepharophimosis, floppy eyelids, telecanthus, downward...

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Identifiers

PMID: 39658964
DOI: 10.1080/13816810.2024.2438652

Genes

ZMIZ1

Variants

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