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| Mendeliome v1.4744 | WDHD1 |
Achchuthan Shanmugasundram gene: WDHD1 was added gene: WDHD1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: WDHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDHD1 were set to 41962535 Phenotypes for gene: WDHD1 were set to microcephalic osteodysplastic primordial dwarfism, MONDO:0000060 Review for gene: WDHD1 was set to GREEN Added comment: PMID:41962535 (2026) reported the identification of biallelic hypomorphic variants in WDHD1 gene in 17 patients from 14 families with microcephalic primordial dwarfism (MPD) and a broad spectrum of additional abnormalities including acute liver failure. There is also functional evidence available from patient-derived fibroblasts which supports the disease association. Sources: Literature |
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