Disease: Macrocephaly ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.490 Biomarker disease CTD_human A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8. 30670789 2019
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.490 Biomarker disease CTD_human Disruptive CHD8 mutations define a subtype of autism early in development. 24998929 2014