Distal 17p13.1 microdeletion syndrome

MONDO:0017867

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.

Also known as: distal del(17)(p13.1)

0 clinical trials for this condition and its sub-types, 0 tagged with Distal 17p13.1 microdeletion syndrome itself.

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↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Chromosome 17p13.1 deletion syndrome (1)

Including sub-types (0) Tagged with Distal 17p13.1 microdeletion syndrome (0)

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