1.PKHD1 chr6:51798938 NM_138694.3:c.6091del G, (p.Ala2031Leufs *2) EX37/CDS36, (het/Father het/Mother wt, p)PKD type 4 with or without more Cystic liver (OMIM:263200)/AR; 2.PKHD1 chr6:51927371 NM_138694.3:c.1064T>G (p.Val355Gly) EX14/CDS13, (het/Father wt/Mother het,vous) supplement 1: STS chrX:6968338–7268302 NM_000351.4: EX1-EX10E Del, (het/Father hem/Mother wt,p),X-linked ichthyosis (OMIM:308100)/XL. The gene discussed is PKHD1; the disease is syndromic recessive X-linked ichthyosis.