chromosome 14q11-q22 deletion syndrome
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.
MONDO:0016912
partial deletion of the long arm of chromosome 14
is_a
14q11.2 microdeletion syndrome
exact
Del(14)(q11.2)
exact
chromosome 14q11-q22 deletion syndrome
exact
chromosome 14q11-q22 deletion syndrome, isolated cases
exact
monosomy 14q11.2
exact