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Human Disease

syndromic X-linked intellectual disability 17

Term ID
DOID:0060803
Synonyms
  • intellectual disability-alacrima-achalasia syndrome
  • mental retardation, X-linked, syndromic 17
  • X-linked mental retardation with alacrima and achalasia
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
References
Ontology
Human Disease   ( DOID:0060803 )
Relationships
is a type of
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Genes Involved
Zebrafish Models