Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.
Comprehensive, easy-to-understand information about this condition
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autosomal recessive congenital ichthyosis 2
MONDO:0009439
autosomal recessive congenital ichthyosis 3
MONDO:0011680
autosomal recessive congenital ichthyosis 6
MONDO:0012847
autosomal recessive congenital ichthyosis 7
MONDO:0014009
autosomal recessive congenital ichthyosis 9
MONDO:0014010