Autosomal recessive macrocephaly/megalencephaly syndrome (MGCPH) is characterized by intellectual disability, macro crania, and megalencephaly. Mutations in TBC1D7 were reported in patients. TBC1D7 forms a complex with TSC1 and TSC2 that inhibits mTORC1 signaling and limits cell growth.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the nervous system
LA05 Cerebral structural developmental anomalies
H02446 Autosomal recessive macrocephaly/megalencephaly syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06522 mTOR signaling
H02446 Autosomal recessive macrocephaly/megalencephaly syndrome
