Distal 17p13.1 microdeletion syndrome
MONDO:0017867Distal 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)
6 clinical trials for this condition and its sub-types.
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Disease
(618)
Human disease
(14)
Chromosomal disorder
(12)
Developmental defect during embryogenesis
(7)
Chromosome 17p deletion
(5)
Disease of genetic or genomic mechanism
(2)
Chromosome 17p13.1 deletion syndrome
(1)
Multiple congenital anomalies/dysmorphic syndrome
(1)
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
(1)
Autosomal anomaly
(0)