Potocki-Shaffer syndrome
Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).
MONDO:0002254
syndromic disease
is_a
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
MONDO:0016893
partial deletion of the short arm of chromosome 11
is_a
11p11.2 deletion
exact
PSS
related
Potocki-Shaffer syndrome
exact
deletion of chromosome 11p11.2
related
proximal 11p deletion syndrome
exact