Search Ontology:
Human Disease
chromosome 17q23.1-q23.2 deletion syndrome
- Term ID
- DOID:0060405
- Synonyms
-
- 17q23.1-q23.2 microdeletion syndrome
- 17q23.1q23.2 microdeletion syndrome
- Definition
- A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. https://pubmed.ncbi.nlm.nih.gov/20598276
- References
-
- GARD:10936
- ICD10CM:Q93.5
- MIM:613355
- ORDO:261279
- Ontology
- Human Disease ( DOID:0060405 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models