distal 17p13.1 microdeletion syndrome
Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0013415
chromosome 17p13.1 deletion syndrome
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
distal del(17)(p13.1)
exact