<unk>  encephalopathy is an autosomal dominant genetic disorder caused by haploinsufficiency of the<unk> protein, usually due to the presence of a heterozygous protein-truncating loss-of-function variation on the<unk>  gene. Missense variations, which may result in either a loss or a change-of-function can also result in the disorder. These pathogenic variations disrupt early cognitive development, particularly in the hippocampus and cortex. The majority of mutations are considered de novo, however cases of inheritance from both somatic mosaic and germ-line mosaic parents have been reported.
SYNGAP1-related intellectual disability
SYT1-associated neurodevelopmental disorder
MECP2 duplication syndrome
LMNA-related congenital muscular dystrophy
X-linked intellectual disability
X-linked spinal muscular atrophy type 2
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Foster Kennedy syndrome