This condition is caused by heterozygous mutations in the<unk>  gene, located on the long arm of chromosome 12 (12q21.2), which are inherited in an autosomal dominant fashion.
SYT1-associated neurodevelopmental disorder
SYNGAP1-related intellectual disability
LMNA-related congenital muscular dystrophy
MECP2 duplication syndrome
Dopamine transporter deficiency syndrome
X-linked spinal muscular atrophy type 2
Foster Kennedy syndrome
Huntington's disease-like syndrome