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Metadata
ID DOID:0060803
Name syndromic X-linked intellectual disability 17
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.
https://www.ncbi.nlm.nih.gov/pubmed/21744492
Xrefs

OMIM:300858

ORDO:289483

Synonyms

intellectual disability-alacrima-achalasia syndrome [EXACT]

mental retardation, X-linked, syndromic 17 [EXACT]

X-linked mental retardation with alacrima and achalasia [EXACT]

Parent Relationships

is_a syndromic X-linked intellectual disability

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