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| Congenital fibrosis of the extraocular muscles v2.4 | ZFHX4 |
Nicky Cronbach 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 Added comment: 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 |
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