Conditions / Syndrome
oculocerebrorenal syndrome
info · Syndrome · ICD-10: E72.03
A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Aminoaciduria
- Short stature
- Seizure
- Camptodactyly of finger
- Renal insufficiency
- Hypotonia
- Aggressive behavior
- Developmental cataract
- Elevated amniotic fluid alpha-fetoprotein concentration
Also known as: Lowe syndrome; lowe oculocerebrorenal syndrome; oculocerebrorenal syndrome of Lowe