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Article

ZMIZ1-Associated Neurodevelopmental Disorder in a 52-Year-Old Woman.

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

Rogan Sila, Gador Anthony, Carroll Evelyn, Friedman Jan M

Abstract excerpt

Variants in ZMIZ1 can cause a syndromic neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies. Here we report a woman with a de novo ZMIZ1 c.899C>T (p.Thr300Met) variant, low average IQ, high myopia, craniofacial dysmorphisms, genitourinary anomalies, cardiac defects, lower limb deformities, and chronic pain. She died unexpectedly at 52 years of age. Additional findings seen on autopsy...

Topics

Humans
Female
Middle Aged
Neurodevelopmental Disorders
Transcription Factors
Mutation
Phenotype

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 41039966
DOI: 10.1002/ajmg.a.64243

Genes

ZMIZ1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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