Disease: Macrocephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 GeneticVariation disease BEFREE We report on a large family in which a novel X-linked recessive mental retardation (XLMR) syndrome comprising macrocephaly and ciliary dysfunction co-segregates with a frameshift mutation in the OFD1 gene. 16783569 2006
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 Biomarker disease HPO