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Human Disease
chromosome 17q12 deletion syndrome
- Term ID
- DOID:0060404
- Synonyms
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- 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
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- GARD:13297
- ICD10CM:Q93.5
- MIM:614527
- ORDO:261265
- Ontology
- Human Disease ( DOID:0060404 )
- is a type of
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