Hypoplasie van middengezicht - gehoorstoornis - elliptocytose - nefrocalcinose-syndroom
ORPHA:688581· ICD-10 H90.3· Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome
- Prevalentie
- <1 / 1 000 000
- Overerving
- X-linked recessive