CHILD syndrome is an acronym for an X-linked dominant disorder characterized by congenital hemidysplasia with ichythyosiform erythrodema and limb defects. The mutations are lethal in hemizygous males. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
X-linked dominant
Xq28
CHILD syndrome is an acronym for an X-linked dominant disorder characterized by congenital hemidysplasia with ichythyosiform erythrodema and limb defects. The mutations are lethal in hemizygous males. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 308050.1 | Lebanon | Female | No | Verruciform xanthoma Verruciform xanthoma  | NM_015922.3:c.314C>T | X-linked, Dominant | Kurban et al, 2010b |