Metadata | |
---|---|
ID | DOID:0060392 |
Name | chromosome 14q11-q22 deletion syndrome |
Definition | A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14. https://pubmed.ncbi.nlm.nih.gov/21744488 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
14q11.2 microdeletion syndrome [EXACT] |
Parent Relationships |