chromosome 17q11.2 deletion syndrome, 1.4Mb
A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.
MONDO:0019716
overgrowth syndrome
excluded_subClassOf
MONDO:0016915
partial deletion of the long arm of chromosome 17
is_a
MONDO:0018975
neurofibromatosis type 1
is_a
17q11 microdeletion syndrome
exact
Del(17)(q11)
exact
MMFD
exact
NF1 microdeletion syndrome
exact
RNF135-related overgrowth syndrome
exact
Van Asperen syndrome
exact
chromosome 17q11.2 deletion syndrome
exact
chromosome 17q11.2 deletion syndrome, 1.4-MB
exact
macrocephaly, macrosomia, and facial dysmorphism syndrome
exact
monosomy 17q11
exact
neurofibromatosis 1 microdeletion syndrome
exact
neurofibromatosis type 1 microdeletion syndrome
exact
overgrowth-macrocephaly-facial dysmorphism syndrome
exact