X-linked Alport syndrome/KCNE1L mutation associated

Genetics

• X-linked contiguous gene deletion syndrome
• associated defects in KCNE1L

Clinical manifestations

• mental retardation
• midface hypoplasia
• glomerulonephritis
• deafness

Laboratory

-peripheral blood smear: elliptocytosis

More general terms

• Alport syndrome; hereditary nephropathy

Database

• OMIM: https://mirror.omim.org/entry/300194