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distal monosomy 1q

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description 1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.
Mondo Term and Equivalent IDs
MONDO:0018205:  distal monosomy 1q
Orphanet:36367: 
SCTID:717633007: 
UMLS:C4273897: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found