disease arises from structure
disease arises from alteration in structure
14q12 (Human)
syndrome caused by partial chromosomal deletion
14q12 microdeletion syndrome
https://github.com/monarch-initiative/mondo/issues/3664
Del(14)(q12)
GARD:20771
UMLS:C4305240
SCTID:719574007
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.
monosomy 14q12
Orphanet:261144
MONDO:0016833
partial deletion of the long arm of chromosome 14