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Autosomal recessive congenital ichthyosis v1.9 ALDH3A2 Denise Williams gene: ALDH3A2 was added
gene: ALDH3A2 was added to Autosomal recessive congenital ichthyosis. Sources: Expert Review
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to 31273323; 27547594; 9829906
Phenotypes for gene: ALDH3A2 were set to congenital ichthyosis; intellectual disability; spastic diplegia, ocular anomalies.
Penetrance for gene: ALDH3A2 were set to Complete
Review for gene: ALDH3A2 was set to GREEN
Added comment: This is a well-recognised multi-systemic condition that can present with congenital ichthyosis. Early diagnosis is important to monitor other aspects of the condition.
Sources: Expert Review