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| Term | syndromic X-linked intellectual disability 17 | ID (Ontology) | DOID:0060803 (Human Disease) |
| Definition | A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23. | ||
| Also Known As | "intellectual disability-alacrima-achalasia syndrome" ; "mental retardation, X-linked, syndromic 17" ; "X-linked mental retardation with alacrima and achalasia" | ||
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X-linked monogenic disease |__syndromic X-linked intellectual disability__ |__X-linked recessive disease__________________| syndromic intellectual disability | |__syndromic X-linked intellectual disability__| syndromic X-linked intellectual disability 17 |
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syndromic X-linked intellectual disability X-linked recessive disease |
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MIM:300858 ORDO:289483 |
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