SIHIWES is caused by de novo (new) variants that occur in one copy of the CHD4 gene. Most variants cause missense substitutions (substitution of an amino acid) in an important part of the protein.
CHD4
SIHIWES is caused by de novo (new) variants that occur in one copy of the CHD4 gene. Most variants cause missense substitutions (substitution of an amino acid) in an important part of the protein.