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Entry Name Description Category Pathway Gene
H02614 Snijders Blok-Campeau syndrome ... speech and language skills, and characteristic facial features. It has been reported that mutations in CHD3 cause this disease. CHD3 is a core component of the NuRD complex, which possesses both chromatin ... Congenital malformation CHD3 [HSA:1107] [KO:K11642]
H02616 Neurodevelopmental disorder with macrocephaly ... macrocephaly is a heterogeneous group of diseases. It has been reported that pathogenic variants in CHD3, CHD4, and GATAD2B are associated with this disease. They are components of the nucleosome remodeling ... Congenital malformation (SNIBCPS) CHD3 [HSA:1107] [KO:K11642]
(SIHIWES) CHD4 [HSA:1108] [KO:K11643]
(GAND) GATAD2B [HSA:57459] [KO:K23194]
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