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

• OMIM:300858
• ORDO:289483

Ontology

Human Disease   ( DOID:0060803 )