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Metadata
ID	DOID:0060402
Name	chromosome 17p13.1 deletion syndrome
Definition	A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is 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. https://pubmed.ncbi.nlm.nih.gov/19617690
Xrefs	GARD:10996 MESH:D054221 MIM:613776
Subsets	DO_rare_slim
Parent Relationships	is_a chromosomal deletion syndrome is_a autosomal dominant disease