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  2. Congenital fibrosis of the extraocular muscles
  3. ZFHX4
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Congenital fibrosis of the extraocular muscles

Gene: ZFHX4

No list
ZFHX4 (zinc finger homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000091656
EnsemblGeneIds (GRCh37): ENSG00000091656
OMIM: 606940, Gene2Phenotype
ZFHX4 is in 3 panels

1 review

Nicky Cronbach (UCL/Moorfields Eye Hospital)

Green List (high evidence)

Multiple unrelated cases of isolated congenital ptosis reported. Three unrelated Han-Chinese patients (PMID 41524020) and one Nepalese patient (32962661) with missense variants in ZFHX4, and one case (unspecified ethnicity) related to a translocation disrupting ZFHX4.
Sources: Literature
Created: 26 Jun 2026, 11:21 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Isolated congenital ptosis

Publications

Created: 26 Jun 2026, 11:21 a.m.

Panel version: 2.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Isolated congenital ptosis
OMIM
606940
Clinvar variants
Variants in ZFHX4
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

26 Jun 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Nicky Cronbach (UCL/Moorfields Eye Hospital)

gene: ZFHX4 was added gene: ZFHX4 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZFHX4 were set to PMID: 41524020; 11935336; 32962661 Phenotypes for gene: ZFHX4 were set to Isolated congenital ptosis Penetrance for gene: ZFHX4 were set to unknown Review for gene: ZFHX4 was set to GREEN