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Autosomal recessive congenital ichthyosis v1.7 ISCA-37417-Loss Louise Daugherty Region: ISCA-37417-Loss was added
Region: ISCA-37417-Loss was added to Autosomal recessive congenital ichthyosis. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for Region: ISCA-37417-Loss were set to Ichthyosis, X-linked; 308100