DISEASE: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Entry
H02606 Disease
Name
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Description
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures (PAMDDFS) is an 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 complex that regulate the assembly of microtubules.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD20 Syndromes with central nervous system anomalies as a major feature
H02606 Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06515 Regulation of kinetochore-microtubule interactions
H02606 Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Network
nt06515 Regulation of kinetochore-microtubule interactions
