disease arises from structure disease arises from alteration in structure 17q12 (Human) syndrome caused by partial chromosomal deletion chromosome 17q12 deletion syndrome https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/chromosome_17q12_deletion_syndrome 17q12 recurrent deletion syndrome OMIM:614527 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported. GARD:0013297 Orphanet:261265 UMLS:C3281138 Del(17)(q12) monosomy 17q12 DOID:0060404 chromosome 17q12 deletion syndrome SCTID:733519008 17q12 deletion syndrome MEDGEN:482768 MONDO:0013797 17q12 microdeletion syndrome partial deletion of the long arm of chromosome 17