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Entry Name Description Category Pathway Gene
H02606 Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures ... autosomal recessive neuronal migration disorder. It has been reported that PAMDDFS is caused by mutations in TUBGCP2, encoding gamma-tubulin complex protein 2 (GCP2). GCP2 is a core component of gamma-tubulin ring ... Congenital malformation TUBGCP2 [HSA:10844] [KO:K16569]
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