ZFIN Human Disease: chromosome 17q12 deletion syndrome

OBO ID: DOID:0060404

Term Name:	chromosome 17q12 deletion syndrome		Search Ontology:
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 )

Relationships

is a type of:	autosomal dominant disease chromosomal deletion syndrome autosomal dominant disease chromosomal deletion syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None