DDHD2, DDHD domain containing 2, 23259

N. diseases: 37; N. variants: 11
Disease: Hypoplasia of corpus callosum ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.110 Biomarker disease BEFREE Our cases indicate that the possibility of SPG54 should also be considered when patients show a combination of adult-onset spastic ataxia and a thin corpus callosum. 25417924 2014
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.110 Biomarker disease HPO