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Article

Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent.

American journal of medical genetics. Part A - 1 Mar 2020

Latchman Kumarie, Calder Madison, Morel Dayna, Rhodes Lindsay, Juusola Jane, Tekin Mustafa

Abstract excerpt

ZMIZ1, zinc finger MIZ-domain containing 1, has recently been described in association with syndromic intellectual disability in which the primary phenotypic features include intellectual disability/developmental delay, seizures, hearing loss, behavioral issues, failure to thrive, and various congenital malformations. Most reported cases have been found to result from de novo mutations except for one set of three...

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PMID: 31833199
DOI: 10.1002/ajmg.a.61446

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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