A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are intellectual disability, growth and developmental delay, facial dysmorphism (including microphthalmia, deep-set eyes, low-set, malformed ears, bulbous
trisomie 9 en mosaïque
SNOMEDCT-BE (including microphthalmia, deep-set eyes, low-set, malformed ears, bulbous / 764989007
SNOMEDCT-BE (disorder) / 764989007