chromosome 17q12 deletion syndrome

Term ID

DOID:0060404

Synonyms

• 17q12 microdeletion syndrome

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

• GARD:13297
• ICD10CM:Q93.5
• OMIM:614527
• ORDO:261265

Ontology

Human Disease   ( DOID:0060404 )