1q44 microdeletion syndrome
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
MONDO:0022756
chromosome 1q deletion
is_a
Del(1)(q44)
exact
chromosome 1q44 microdeletion syndrome
related
monosomy 1q44
exact