Term Name: | chromosome 17p13.1 deletion syndrome |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0060402] ( DOID:0060402 ) |