INPP5E and Retinal dystrophy: Biallelic pathogenic variants (in homozygosity or compound heterozygosity) are associated with syndromic ciliopathies such as Joubert Syndrome type 1 (JBTS1 MIM #213300) and Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome (MORMS, MIM #610156).