CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi. [From Orphanet]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Somatic mosaicism
3q26.32
CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi. [From Orphanet]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 612918.1 | United Arab Emirates | Female | No | No | Macrocephaly; Abnormal facial shape; Nev... Macrocephaly; Abnormal facial shape; Nevus flammeus; Overgrowth  | NM_006218.3:c.2740G>A | Heterozygous | Saleh et al. 2021 | de novo mutation |