disease arises from structure disease arises from alteration in structure disease has major feature 2q24 (Human) syndrome caused by partial chromosomal deletion cataract 2q24 microdeletion syndrome https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/developmental_delay_language_impairment_dopa_responsive_dystonia_parkinsonism_syndrome_due_to_2q24_microdeletion MONDO:0015566 deletion 2q24 MEDGEN:419168 Orphanet:1617 SCTID:719658006 monosomy 2q24 2q24 deletion 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. MESH:C538316 Del(2)(q24) chromosome 2q24 microdeletion syndrome UMLS:C2931816 GARD:0003746 partial deletion of the long arm of chromosome 2 obsolete chromosomal anomaly with cataract