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| Term | chromosome 17p13.1 deletion syndrome | ID (Ontology) | DOID:0060402 (Human Disease) |
| 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. | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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autosomal genetic disease |__autosomal dominant disease_____ chromosomal disease | |__chromosomal deletion syndrome__| chromosome 17p13.1 deletion syndrome |
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| Is a |
autosomal dominant disease chromosomal deletion syndrome |
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External Crossreferences & Linkouts
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GARD:10996 MESH:D054221 MIM:613776 |
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