RBBP8, RB binding protein 8, endonuclease, 5932

N. diseases: 110; N. variants: 7
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 GeneticVariation disease BEFREE We report on a consanguineous Pakistani family with homozygous RBBP8 mutation c.1808_1809delTA (p.Ile603Lysfs*7) manifesting microcephaly and a distinct combination of skeletal, limb and ectodermal defects, mild intellectual disability, minor facial anomalies, anonychia, disproportionate short stature and brachydactyly, and additionally talipes in one patient. 26333564 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 GeneticVariation disease BEFREE A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1. 24440292 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 Biomarker disease HPO