OBO ID: DOID:0060404 |
Term Name: | chromosome 17q12 deletion syndrome | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome | ||
References: |
|
||
Ontology: | Human Disease ( DOID:0060404 ) |
OTHER chromosome 17q12 deletion syndrome PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.