Dent disease 2 (MIM 300555, or Lowe syndrome or oculocerebrorenal
syndrome, MIM 309000) is also an X-linked recessive disease caused by mutations in the OCRL gene (MIM 300535) which encodes inositol polyphosphate-5-phosphatase (145).
The Lowe's oculocerebrorenal
syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase.
Dent's disease of type 2 is thought to be a mild variant of oculocerebrorenal
syndrome (Lowe syndrome) because both conditions are caused by mutation in the OCRL1 gene and therefore, the former is manifested sometimes with extrarenal features, including mild ocular involvement, mild intellectual disability, muscle hypotonia, umbilical hernia or short stature [2,3].
syndrome of Lowe-magnetic resonance imaging findings in the first six years of life.
Performance on compound words was particularly paltry, with unseleted, unturned, multicenter, multidose, multiorgan, noncardiac, nontraumatic, reinjection, seroprevalence, underdetection, and undertreatment being among the nonlisted words (although oculocerebrorenal
and lymphangioleiomyomatosis passed!).