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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |