GPKOW

G-patch domain and KOW motifs
OMIM: 301003
PanelMode of inheritanceDetails
2 panels
R-numbers: R21, R412
Signed-off version 7.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Intrauterine growth restriction, microcephaly/microencephaly, and eye, brain, skin, and skeletal abnormalities, microcephaly with intrauterine growth restriction
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
microcephaly with intrauterine growth restriction