| 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 | |
| Subsets |
DO_rare_slim |
| 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 | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |