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| Mendeliome v1.3941 | FRMD4B | Zornitza Stark Marked gene: FRMD4B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3941 | FRMD4B | Zornitza Stark Gene: frmd4b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3941 | FRMD4B |
Zornitza Stark gene: FRMD4B was added gene: FRMD4B was added to Mendeliome. Sources: Literature Mode of inheritance for gene: FRMD4B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRMD4B were set to 40162949 Phenotypes for gene: FRMD4B were set to Duane retraction syndrome, MONDO:0007473, FRMD4B-related Review for gene: FRMD4B was set to RED Added comment: PMID 40162949 reports an individual with homozygous FRMD4B missense (c.380A>G, p.Lys127Arg) variant presenting with Duane retraction syndrome type III and syndromic features (hearing loss, developmental delay, atrial septal defect, gastrointestinal abnormalities). Zebrafish loss‑of‑function model recapitulates the cranial nerve phenotype, supporting a loss‑of‑function disease mechanism. Sources: Literature |
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