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| Mitochondrial disorders v2.47 | ACSL4 |
Andžela Lazdāne gene: ACSL4 was added gene: ACSL4 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: ACSL4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ACSL4 were set to PMID: 33340416 Phenotypes for gene: ACSL4 were set to Long-chain fatty acid-CoA ligase 4 deficiency; Mental retardation; Autistic features; Intellectual disability Review for gene: ACSL4 was set to GREEN Added comment: X-linked intellectual disability type 63. The gene is included in international classification of inherited metabolic disorders (ICIMD), Disorders of lipid metabolism. IEM Nosology Group (IEMbase): Disorders of cytoplasmic triglyceride metabolism. Sources: Literature |
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