8p23.1 microdeletion syndrome
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.
MONDO:0002254
syndromic disease
is_a
MONDO:0016890
partial deletion of the short arm of chromosome 8
is_a
8p23.1 deletion
related
Del(8)(p23.1)
exact
chromosome 8p23.1 deletion
related
deletion 8p23.1
related
monosomy 8p23.1
exact